NCIt Code NCIt PT Subset PT Subset SY NCIt Definition Subset Definition NCIt Code of First Parent First Parent NCIt Code of Second Parent Second Parent NCIt Code of Subset PT of NICHD Subset Subset Antiquated PT Subset Antiquated SY C100104 Sign or Symptom Sign or Symptom Signs or Symptoms Objective evidence of disease perceptible to the examining practitioner (sign) and subjective evidence of disease perceived by the patient (symptom). C3367 Finding C90259 NICHD Terminology C101022 Cerebral Arterial Aneurysm Cerebral Arterial Aneurysm A balloon type pouch or bulge in the wall of a cerebral artery. C34458 Intracranial Aneurysm C90259 NICHD Terminology C101023 Cerebral Venous Aneurysm Cerebral Venous Aneurysm A balloon type pouch or bulge in the wall of a cerebral vein. C34458 Intracranial Aneurysm C90259 NICHD Terminology C101024 Colon Atresia Colon Atresia Congenital Atresia of Colon A congenital malformation characterized by the absence of a normal opening in a part of the colon. C97171 Congenital Gastrointestinal Disorder C90259 NICHD Terminology C101025 Duodenal Atresia Duodenal Atresia Congenital Atresia of Duodenum A congenital malformation characterized by the absence of a normal opening in a part of the duodenum. C98828 Small Intestine Atresia C90259 NICHD Terminology C101026 Ileal Atresia Ileal Atresia Congenital Atresia of Ileum A congenital malformation characterized by the absence of a normal opening in a part of the ileum. C98828 Small Intestine Atresia C90259 NICHD Terminology C101027 Jejunal Atresia Jejunal Atresia Congenital Atresia of Jejunum A congenital malformation characterized by the absence of a normal opening in a part of the jejunum. C98828 Small Intestine Atresia C90259 NICHD Terminology C101028 Neonatal Aspiration of Amniotic Fluid Neonatal Aspiration of Amniotic Fluid Inhalation of fluid from the amniotic sac into the lungs by the neonate. Aspiration of amniotic fluid around the time of delivery resulting in severe respiratory distress. C98996 Neonatal Disorder C83507 Aspiration C90259 NICHD Terminology C101029 Atrioventricular Septal Defect Common Atrioventricular Canal A congenital heart malformation characterized by abnormalities in the anatomic structures that relate to the endocardial cushions. These abnormalities can include defects in the lower part of the atrial septum and the ventricular septum and lack of separation of the mitral and tricuspid valves. C84482 Congenital Septal Defect C90259 NICHD Terminology C101030 Complete Atrioventricular Canal Defect Balanced Complete Atrioventricular Canal Defect (Balanced) Atrioventricular septal defect in which the atrioventricular junction is shared evenly between the left ventricle and right ventricle. C101029 Common Atrioventricular Canal C90259 NICHD Terminology C101031 Complete Atrioventricular Canal Defect Unbalanced Complete Atrioventricular Canal Defect (Unbalanced) Atrioventricular septal defect in which there is usually a single dominant ventricle and a hypoplastic ventricle. C101029 Common Atrioventricular Canal C90259 NICHD Terminology C101032 Dextrocardia Situs Solitus Dextrocardia Situs Solitus Dextrocardia, Normal Situs A congenital heart defect in which the heart is located in the right side and the other organs are in their normal position. C84669 Dextrocardia C90259 NICHD Terminology C101033 Functional Bowel Obstruction Functional Intestinal Obstruction Intestinal Obstruction, Functional The blockage of bowel contents from evacuation; the causes are attributable to non-structural impediments, such as chemical imbalances or the side effects of medications, narcotics in particular. C9175 Bowel Obstruction C90259 NICHD Terminology C101034 Intentional Trauma Intentional Trauma Non-accidental Trauma || Nonaccidental Trauma An injury that is not the result of an accident or natural causes. An injury that is not the result of an accident or natural causes. C3671 Injury C90259 NICHD Terminology C101035 Neonatal Injury Related to Birth Birth Injury Birth Trauma || Neonatal Injury Related to Birth An injury sustained to a neonate during the birthing process. Injury to a newborn incurred during labor and delivery. C3671 Injury C90259 NICHD Terminology C101036 Retinopathy of Prematurity with Plus Disease Retinopathy of Prematurity with Plus Disease A stage of retinopathy of prematurity characterized by the presence of the following in at least two quadrants around the optic nerve: dilation and tortuosity of major retinal vasculature as a result of increased blood flow. A vasoproliferative condition of very immature newborn infants that may be characterized by neovascularization, scarring, retinal detachment, and eventually blindness. Plus disease is characterized by at least two quadrants around the optic nerve showing evidence of dilation and tortuosity of the major retinal vessels resulting from increased blood flow or neovascularization of the iris or poor view of the retina due to vitreous haze. C34982 Retinopathy of Prematurity C90259 NICHD Terminology C101037 Transient Tachypnea of the Newborn Transient Tachypnea of the Newborn Retained Fetal Lung Fluid || Transitory Tachypnea of Newborn || Type II Respiratory Distress Syndrome || Wet Lung Syndrome A respiratory disorder characterized by higher than normal respiratory rates among premature and cesarean section delivered neonates whose lungs have not fully matured. The cause is often excess fluid in the lungs, and resolution is aided by supplemental oxygen and sometimes, antibiotics. A benign, self-limited, parenchymal lung disorder characterized by pulmonary edema resulting from delayed clearance of fetal alveolar fluid. C99232 Neonatal Respiratory System Disorder C90259 NICHD Terminology C101039 Escobar Syndrome Escobar Syndrome A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant. C99267 Congenital Malformation Syndrome C90259 NICHD Terminology C101040 Total Colonic Aganglionosis Total Colonic Aganglionosis The severe form of Hirschsprung disease, this is characterized by a complete lack of nerve cells in the large intestine, and often a partial lack in the small intestine. The bowel is not stimulated without innervation and obstruction ensues. Surgical intervention is necessary. C101074 Total Intestinal Aganglionosis C90259 NICHD Terminology C101041 Short Segment Hirschsprung Disease Short Segment Hirschsprung's Disease The most common form of Hirschsprung Disease, this is characterized by a lack of nerve cells in the sigmoid colon and rectum. The bowel is not stimulated without innervation and obstruction ensues. Surgical intervention is necessary. C34700 Hirschsprung Disease C90259 NICHD Terminology C101042 Steroid 21-Monooxygenase Deficiency Steroid 21-Monooxygenase Deficiency Less than necessary amount of the enzyme steroid 21-monooxygenase; which is necessary to synthesize cortisol. C3492 Enzyme Deficiency C90259 NICHD Terminology C101043 Methemoglobin Reductase Deficiency Methemoglobin Reductase Deficiency Less than the necessary amount of the enzyme that converts methemoglobin into hemoglobin. C3492 Enzyme Deficiency C90259 NICHD Terminology C101044 Spina Bifida Occulta Spina Bifida Occulta The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an x-ray is performed. Treatment is symptomatic. C101214 Spina Bifida C90259 NICHD Terminology C101045 Drug Induced Methemoglobinemia Drug-Induced Methemoglobinemia Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene). C98805 Acquired Methemoglobinemia C90259 NICHD Terminology C101050 Aortopulmonary Window Aortopulmonary Window A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery. C84482 Congenital Septal Defect C90259 NICHD Terminology C101074 Total Intestinal Aganglionosis Total Intestinal Aganglionosis A complete lack of ganglia in the intestine. This is an extremely severe form of Hirschsprung Disease. C34700 Hirschsprung Disease C90259 NICHD Terminology C101185 Dextro-Transposition of the Great Vessels with Intact Ventricular Septum Dextro-Transposition of the Great Vessels with Intact Ventricular Septum D-Transposition of the Great Vessels with Intact Ventricular Septum A congenital heart defect in which there is an abnormal arrangement of any of the primary blood vessels of the heart in conjunction with the notable absence of any pathologic opening between the cardiac ventricles. C99096 Dextro-Transposition of the Great Arteries C90259 NICHD Terminology C101186 Dextro-Transposition of the Great Vessels with Ventricular Septal Defect Dextro-Transposition of the Great Vessels with Ventricular Septal Defect D-Transposition of the Great Vessels with Ventricular Septal Defect A congenital heart defect in which there is an abnormal arrangement of any of the primary blood vessels of the heart in conjunction with a pathologic opening between the cardiac ventricles. C99096 Dextro-Transposition of the Great Arteries C90259 NICHD Terminology C101187 Bilateral Anophthalmos Bilateral Anophthalmos Anophthalmos, Bilateral A rare congenital abnormality characterized by the complete absence of ocular tissue in both orbits. C98814 Anophthalmos C90259 NICHD Terminology C101188 Unilateral Anophthalmos Unilateral Anophthalmos Anophthalmos, Unilateral A rare congenital abnormality characterized by the complete absence of ocular tissue in one orbit. C98814 Anophthalmos C90259 NICHD Terminology C101189 Bilateral Microphthalmos Bilateral Microphthalmos Microphthalmos, Bilateral A congenital abnormality characterized by the presence of two abnormally small eye globes. C98989 Microphthalmos C90259 NICHD Terminology C101190 Unilateral Microphthalmos Unilateral Microphthalmos Microphthalmos, Unilateral A congenital abnormality characterized by the presence of one abnormally small eye globe and one normally sized eye globe. C98989 Microphthalmos C90259 NICHD Terminology C101191 Acquired Bilateral Cataracts Acquired Bilateral Cataracts Cataracts in both eyes that result from the aging process, an injury, or as a manifestation of a systemic disorder. C98802 Acquired Cataract C101193 Bilateral Cataracts C90259 NICHD Terminology C101192 Acquired Unilateral Cataract Acquired Unilateral Cataract Cataract, Acquired, Unilateral A cataract in one eye that results from the aging process, an injury, or as a manifestation of a systemic disorder. C98802 Acquired Cataract C90259 NICHD Terminology C101193 Bilateral Cataracts Bilateral Cataracts Partial or complete opacity of the crystalline lens of both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.) C26713 Cataract C90259 NICHD Terminology C101194 Congenital Bilateral Cataracts Congenital Bilateral Cataracts Cataract, Congenital, Bilateral Cataract in both eyes that are present at birth. C98888 Congenital Cataract C101193 Bilateral Cataracts C90259 NICHD Terminology C101195 Congenital Unilateral Cataract Congenital Unilateral Cataract Cataract, Congenital, Unilateral Cataract in one eye that is present at birth. C98888 Congenital Cataract C90259 NICHD Terminology C101196 Congenital Ventricular Tachycardia Congenital Ventricular Tachycardia An electrocardiographic finding of a tachycardia that originates in the ventricles that is present at birth. C95834 Congenital Heart Disease C50802 Ventricular Tachycardia C90259 NICHD Terminology C101197 Congenital Supraventricular Tachycardia Congenital Supraventricular Tachycardia Congenital SVT || Supraventricular Tachycardia (SVT), Congenital || Supraventricular Tachycardia (SVT), Congential A disorder present at birth characterized by an electrocardiographic finding of a tachycardia that originates above the ventricles. C35061 Supraventricular Tachycardia C90259 NICHD Terminology C101198 Congenital Facial Nerve Palsy Congenital Facial Nerve Palsy Partial or complete paralysis of the facial muscles of one side of an individual's face that is present at birth. It is caused by damage to the seventh cranial nerve. A condition characterized by reduced or absent movement of the ipsilateral face as a consequence of an injury to the seventh cranial nerve that has occurred before birth. C97172 Congenital Nervous System Disorder C26769 Facial Nerve Palsy C90259 NICHD Terminology C101199 Congenital Phrenic Nerve Palsy Congenital Phrenic Nerve Palsy Phrenic Nerve Palsy, Congenital Damage to the phrenic nerve that results in paralysis of the hemidiaphragm at birth. A condition characterized by reduced or absent movement of the ipsilateral diaphragm as a consequence of an injury to the phrenic nerve or its origin in cervical roots 3 through 5 that has occurred before birth. C27580 Peripheral Nervous System Disorder C97172 Congenital Nervous System Disorder C90259 NICHD Terminology C101200 Neonatal Alloimmune Thrombocytopenia Neonatal Alloimmune Thrombocytopenia Neonatal Thrombocytopenia due to Platelet Alloimmunization Thrombocytopenia that occurs in neonates as a consequence of transplacental passage of maternal alloantibodies directed against fetal platelet antigens. Thrombocytopenia that occurs in neonates as a consequence of transplacental passage of maternal alloantibodies directed against fetal platelet antigens. C98995 Neonatal Thrombocytopenia C90259 NICHD Terminology C101201 Myelomeningocele Spina Bifida Cystica Myelomeningocele A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. Incomplete closure of the spinal column during central nervous system development with protrusion of a hernial cyst containing meninges, spinal cord, or both. C101214 Spina Bifida C90259 NICHD Terminology C101202 Cervical Myelomeningocele Cervical Myelomeningocele Cervical Meningomyelocele A congenital abnormality in the cervical region of the spine in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. C101201 Spina Bifida Cystica C90259 NICHD Terminology C101203 Lumbar Myelomeningocele Lumbar Myelomeningocele Lumbar Meningomyelocele A congenital abnormality in the lumbar region of the spine, in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. C101201 Spina Bifida Cystica C90259 NICHD Terminology C101207 Sacral Myelomeningocele Sacral Myelomeningocele Congenital Sacral Meningocele A congenital abnormality in the sacral region of the spine, in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. C101201 Spina Bifida Cystica C90259 NICHD Terminology C101208 Thoracic Myelomeningocele Thoracic Myelomeningocele Thoracic Meningomyelocele A congenital abnormality in the thoracic region of the spine, in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. C101201 Spina Bifida Cystica C90259 NICHD Terminology C101209 Spinal Meningocele Spinal Meningocele Meningocele A congenital abnormality in which the meninges protrude through a defect in the spinal column. C101214 Spina Bifida C90259 NICHD Terminology C101210 Cervical Meningocele Cervical Meningocele A congenital abnormality in the cervical region of the spine in which the meninges protrude through a defect in the spinal column. C101209 Spinal Meningocele C90259 NICHD Terminology C101211 Lumbar Meningocele Lumbar Meningocele A congenital abnormality in the lumbar region of the spine in which the meninges protrude through a defect in the spinal column. C101209 Spinal Meningocele C90259 NICHD Terminology C101212 Sacral Meningocele Sacral Meningocele A congenital abnormality in the sacral region of the spine in which the meninges protrude through a defect in the spinal column. C101209 Spinal Meningocele C90259 NICHD Terminology C101213 Thoracic Meningocele Thoracic Meningocele A congenital abnormality in the thoracic region of the spine in which the meninges protrude through a defect in the spinal column. C101209 Spinal Meningocele C90259 NICHD Terminology C101214 Spina Bifida Spina Bifida A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae. C84923 Neural Tube Defect C90259 NICHD Terminology C101215 Mullerian Inhibiting Factor Deficiency Mullerian Inhibiting Factor Deficiency MIS Deficiency || Mullerian Inhibiting Substance Deficiency A deficiency of the Mullerian inhibiting substance, which is secreted by the Sertoli cells during embryogenesis. It can result in unilateral or bilateral cryptorchidism, testicular regression syndrome and sterility. C27019 Male Reproductive System Disorder C26786 Gonadal Disorder C90259 NICHD Terminology C101216 Myopathy Myopathy A non-neoplastic disorder that affects the muscles. Representative examples include muscular dystrophy, metabolic myopathies, muscular atrophies, and dermatomyositis. C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C101217 Retinal Examination Retinal Examination An examination of the retina of the eye using an ophthalmoscope. C18020 Diagnostic Procedure C90259 NICHD Terminology C101218 Hemolytic Anemia due to Membrane Defect Hemolytic Anemia due to Erythrocyte Membrane Defect Anemia due to Membrane Defect || Hemolytic Anemia due to Membrane Defect A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis. A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis, and hereditary elliptocytosis. C34376 Hemolytic Anemia C34379 Hereditary Hemolytic Anemia C90259 NICHD Terminology C101219 Bilateral Renal Agenesis Bilateral Renal Agenesis A congenital abnormality characterized by the absence of both kidneys. C99041 Renal Agenesis C90259 NICHD Terminology C101220 Unilateral Renal Agenesis Unilateral Renal Agenesis Congenital Solitary Kidney A congenital abnormality characterized by the presence of only one kidney. A congenital abnormality characterized by the presence of only one kidney. C99041 Renal Agenesis C90259 NICHD Terminology C101221 Birth Head Circumference Birth Head Circumference Head Circumference at Initial Disposition The measurement around a neonate's head at birth. C81255 Head Circumference C90259 NICHD Terminology C101222 Complete Trisomy 21 Syndrome Complete Trisomy 21 Syndrome Down Syndrome A syndrome characterized by the presence of three complete copies of genetic material for chromosome 21, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, macroglossia, microgenia, epicanthic eyelids, and a single transverse palmar crease. A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. This condition is characterized by distinctive facial and physical features: short stature, developmental delay, cardiac defects (atrioventricular septal defect, tetralogy of Fallot), hypo- and hyperthyroidism, autoimmune disease (type 1 diabetes mellitus), and hypogonadism. C2950 Chromosomal Abnormality C90259 NICHD Terminology C101223 Complete Trisomy 13 Syndrome Complete Trisomy 13 Syndrome A syndrome characterized by the presence of three complete copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities. C2950 Chromosomal Abnormality C90259 NICHD Terminology C101229 Hypernatremic Dehydration Hypernatremic Dehydration Dehydration resulting from abnormally high levels of sodium in the blood. Infants and individuals that are intubated are at highest risk. C26740 Dehydration C90259 NICHD Terminology C101268 Bilateral Optic Nerve Hypoplasia Bilateral Optic Nerve Hypoplasia Bilateral Hypoplasia of the Optic Nerve || Hypoplasia of the Optic Nerve, Bilateral A congenital abnormality characterized by the underdevelopment of both optic nerves. C98999 Optic Nerve Hypoplasia C90259 NICHD Terminology C101269 Unilateral Optic Nerve Hypoplasia Unilateral Optic Nerve Hypoplasia Hypoplasia of the Optic Nerve, Unilateral || Unilateral Hypoplasia of the Optic Nerve A congenital abnormality characterized by the underdevelopment of one optic nerve. C98999 Optic Nerve Hypoplasia C90259 NICHD Terminology C101270 Kernicterus Related to Isoimmunization Kernicterus due to Isoimmunization Kernicterus related to Isoimmunization Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus. A type of kernicterus due to increased levels of unconjugated bilirubin in the serum as a consequence of the destruction of red blood cells initiated by the transmission of antibodies from a mother to the child via the placenta against any blood group antigen. C26920 Encephalopathy C90259 NICHD Terminology C101271 Perinatal Central Nervous System Depression Perinatal Central Nervous System Depression Difficult Transition to Extrauterine Life Generalized depression of the central nervous system of an infant during the perinatal period. C2934 Central Nervous System Disorder C90259 NICHD Terminology C101272 Spinal Cord Infarct During Birth Spinal Cord Infarct Related to Birth Spinal Cord Infarct during Birth Ischemic necrosis of the spinal cord due to spinal artery occlusion during the birthing process. Ischemic necrosis of the spinal cord due to spinal artery occlusion sustained during the birthing process. C101035 Birth Injury C90259 NICHD Terminology C101273 Suspected Necrotizing Enterocolitis Suspected Necrotizing Enterocolitis The diagnosis assigned when a health care practitioner feels strongly the patient has necrotizing enterocolitis, but lacks definitive proof. C84915 Necrotizing Enterocolitis C90259 NICHD Terminology C101274 Traumatic Chylothorax Traumatic Chylothorax Accumulation of lymph fluid in the pleural cavity as a result of thoracic trauma. C98804 Acquired Chylothorax C90259 NICHD Terminology C101275 Duodenal Band Duodenal Band A pathologic fibrous band that impedes passage of intestinal contents through the duodenum. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C101276 Ileal Band Ileal Band A pathologic fibrous band that impedes passage of intestinal contents through the ileum. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C101277 Jejunal Band Jejunal Band A pathologic fibrous band that impedes passage of intestinal contents through the jejunum. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C101278 Spinal Injury Related to Birth Spinal Cord Injury Related to Birth Spinal Injury Related to Birth || Spinal Injury Related to Birth Trauma An injury to the spine sustained during the birthing process. An injury to the spinal cord occurring during labor and/or delivery. Injury may include compression, partial or complete disruption of the cord. C50750 Spinal Cord Injury C101035 Birth Injury C90259 NICHD Terminology C101279 Laryngeal Agenesis Laryngeal Agenesis Agenesis of Larynx A congenital deformity in which there is no laryngeal structure. C97173 Congenital Respiratory System Disorder C90259 NICHD Terminology C101304 Hemolytic Disease of the Newborn Hemolytic Disease of the Newborn Erythroblastosis Fetalis || Isoimmune Hemolytic Disease of the Newborn A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death. A condition of the newborn characterized by the destruction of red blood cells initiated by the transmission of IgG antibodies from mother to child via the placenta. C3092 Hemoglobinopathy C98996 Neonatal Disorder C90259 NICHD Terminology C101305 Colonic Band Colonic Band A pathologic fibrous band that impedes passage of intestinal contents through the colon. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C101312 Immature Retinopathy of Prematurity Immature Retinopathy of Prematurity ROP || Retinopathy of Prematurity, Immature An immature state in which retinopathy of prematurity cannot be established. Retinopathy of prematurity occurs in premature infants who are born before the retinal vessels complete their normal growth. It can result in disorganized and abnormal growth of retinal blood vessels, which may lead to scarring and retinal detachment. C34982 Retinopathy of Prematurity C90259 NICHD Terminology C101313 Bilateral Renal Dysplasia Bilateral Renal Dysplasia A finding of congenital malformations in both kidneys characterized by the presence of cysts of various sizes, primitive ducts, islands of metaplastic cartilage and undifferentiated mesenchyme, and the absence of cortico-medullary demarcation. Bilateral renal dysplasia is a congenital malformation in both kidneys characterized by the presence of cysts of various sizes, primitive ducts, islands of metaplastic cartilage and undifferentiated mesenchyme, and the absence of cortico-medullary demarcation. C3847 Renal Cell Dysplasia C90259 NICHD Terminology C101314 Coronary Anomaly Coronary Anomaly Coronary Anomalies (includes aneurysm, anomalous) Any deviation from normal in the coronary vasculature. C35729 Congenital Cardiovascular Abnormality C90259 NICHD Terminology C101315 Colonic Web Colonic Web A pathologic fibrous net that impedes passage of intestinal contents through the colon. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C101316 Facial Nerve Palsy Related to Trauma Facial Nerve Palsy Related to Trauma Facial Nerve Palsy due to Trauma Partial or complete paralysis of the facial muscles of one side of an individual's face that is caused by trauma. C26769 Facial Nerve Palsy C90259 NICHD Terminology C101317 Fracture of Long Bone Related to Birth Fracture of Long Bone Related to Birth Fracture of Long Bone Related to Birth Trauma An injury sustained during the birthing process in which the continuity is broken in any bone that is longer in length than width. A breakage in any of the elongated bones of the extremities sustained during the birthing process. C116822 Fracture Related to Birth C90259 NICHD Terminology C101318 Fracture of Skull Related to Birth Fracture of Skull Related to Birth Fracture of Skull Related to Birth Trauma An injury sustained during the birthing process in which the continuity is broken in the skull. A broken skull bone sustained during the birthing process. C50745 Skull Fracture C116822 Fracture Related to Birth C90259 NICHD Terminology C101319 Transient Leukemoid Reaction of the Newborn Leukemoid Reaction of the Newborn Transient Leukemoid Reaction of Newborn Increased white blood cell count and increased neutrophil precursors resembling leukemia in a neonate or fetus. Often, this is a response to medications received, infection or Down syndrome. C3185 Leukemoid Reaction C90259 NICHD Terminology C101320 Perinatal Blood Aspiration Syndrome Perinatal Blood Aspiration Syndrome Perinatal Aspiration of Blood Respiratory distress in the newborn due to inhalation of blood; this is an unusual event and is sometimes linked to the non passage of meconium before delivery or mothers with antepartum hemorrhage. C35095 Perinatal Disorder C83507 Aspiration C90259 NICHD Terminology C101321 Neonatal Drug Withdrawal Neonatal Drug Withdrawal DWN || Drug Withdrawal Syndrome in Newborn A constellation of neurobehavioral features observed following cessation or reduction of antenatal or postnatal drug exposure. A constellation of neurobehavioral features observed following cessation or reduction of antenatal or postnatal drug exposure. C103170 Postnatal Drug Withdrawal C98996 Neonatal Disorder C90259 NICHD Terminology C101322 Complete Atrioventricular Septal Defect with Tetralogy of Fallot Tetralogy of Fallot - Complete AV Canal Defect A rare congenital heart anomaly in which there is coexistence of tetralogy of Fallot and complete atrioventricular septal defect. The latter is characterized by defects in the atrial and ventricular septa and a common atrioventricular valve. C84505 Tetralogy of Fallot C90259 NICHD Terminology C101324 Perinatal Intraventricular Hemorrhage Perinatal Intraventricular Hemorrhage Bleeding within the cerebral ventricles occurring around the time of birth. Bleeding within the cerebral ventricles occurring around the time of birth. C99261 Perinatal Intracranial Hemorrhage C50896 Intraventricular Hemorrhage C90259 NICHD Terminology C101325 Heterotaxy Syndrome with Polysplenia Heterotaxy Syndrome with Polysplenia Heterotaxy, Polysplenia A congenital defect in which there is an abnormal spatial arrangement of the internal thoraco-abdominal organs; this manifestation of the disorder presents with many accessory spleens instead of one. C87083 Heterotaxy C90259 NICHD Terminology C101326 Heterotaxy Syndrome with Asplenia Heterotaxy Syndrome with Asplenia Heterotaxy, Asplenia A congenital defect in which there is an abnormal spatial arrangement of the internal thoraco-abdominal organs; in this manifestation of the disorder, the spleen is absent. C87083 Heterotaxy C90259 NICHD Terminology C101327 Pericardial Anomaly Pericardial Anomaly Any abnormality involving the pericardium. C3079 Heart Disorder C90259 NICHD Terminology C101328 Mitochondrial Myopathy Mitochondrial Myopathy Myopathy caused by mitochondrial abnormalities. C98985 Metabolic Myopathy C90259 NICHD Terminology C101329 Congenital Malformation Syndrome Related to Known Exogenous Cause Congenital Malformation Syndrome Related to Known Exogenous Cause Congenital Malformation Syndrome due to Known Exogenous Cause A syndrome characterized by the presence of structural malformations that are present at birth and can be attributed to an exogenous cause. C99267 Congenital Malformation Syndrome C90259 NICHD Terminology C101331 Respiratory Failure Related to Neuromuscular Disorder Respiratory Failure Related to Neuromuscular Disorder Respiratory Failure due to Neuromuscular Disorder Impaired gas exchange by the respiratory system resulting in hypoxemia and decreased oxygenation of the tissues that may be associated with increased arterial levels of carbon dioxide; the respiratory failure is due to a neuromuscular disorder. C26872 Respiratory Failure C90259 NICHD Terminology C101332 Respiratory Failure Related to Central Nervous System Disorder Respiratory Failure Related to Central Nervous System Disorder Respiratory Failure due to CNS Disorder Impaired gas exchange by the respiratory system resulting in hypoxemia and decreased oxygenation of the tissues that may be associated with increased arterial levels of carbon dioxide; the respiratory failure is due to a central nervous system disorder. C26872 Respiratory Failure C90259 NICHD Terminology C101333 Coagulation Disorder Related to Liver Dysfunction Coagulation Disorder Related to Liver Dysfunction Blood Coagulation Disorder due to Liver Disease || Coagulation Defects due to Liver Disease A disorder of blood clotting that is attributable to a deficiency in liver function. C34347 Acquired Coagulation Factor Deficiency C90259 NICHD Terminology C101334 Organic Acid Metabolism Disorder Organic Acid Metabolism Disorder Disorder of Organic Acid Metabolism An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C101338 Arterial Thrombosis Related to Vascular Access Complication Arterial Thrombosis Related to Vascular Access Complication Acquired Secondary Arterial Thrombosis due to Catheter Complication The formation of a thrombus in the artery as a direct result of an activity associated with vascular access. C98826 Arterial Thrombosis C90259 NICHD Terminology C101339 Venous Thrombosis Related to Vascular Access Complication Venous Thrombosis Related to Vascular Access Complication Acquired Secondary Venous Thrombosis due to Catheter Complication || Venous Thrombosis due to Vascular Access Complication The formation of a thrombus in the vein as a direct result of an activity associated with vascular access. C99107 Venous Thrombosis C90259 NICHD Terminology C101362 Complete Trisomy 18 Syndrome Trisomy 18 Complete Trisomy 18 Syndrome || Edwards Syndrome A constellation of symptoms that occur as a result of the presence of a complete third copy of the 18th chromosome. Characteristics include profound mental retardation and severe malformations. Individuals with this syndrome rarely live past one year. A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts. C2950 Chromosomal Abnormality C90259 NICHD Terminology C101772 Respiratory Arrest Respiratory Arrest Pulmonary Arrest Cessation of breathing function. Cessation of respiratory function. C26872 Respiratory Failure C90259 NICHD Terminology C102954 Systemic Arterial Hypertensive Disorder Systemic Arterial Hypertensive Disorder Hypertensive Disorder, Systemic Arterial Any condition resulting in systemically elevated blood pressure that is attributed to an arterial source. C3117 Hypertension C90259 NICHD Terminology C102955 Great Blood Vessel Great Blood Vessel Any of the major arteries or veins attached to the cardiac atria or ventricles. This includes the aorta, superior and inferior vena cava and the pulmonary arteries and veins. C32221 Body Part C90259 NICHD Terminology C102971 Cardiac Resuscitation Cardiac Resuscitation Measures performed to restore cardiac function. C49236 Therapeutic Procedure C90259 NICHD Terminology C102975 Fracture of Clavicle Related to Birth Fracture of Clavicle Related to Birth Fracture of Clavicle Related to Birth Trauma An injury sustained during the birthing process in which the continuity is broken in the clavicle. A broken clavicle sustained during the birthing process. C101317 Fracture of Long Bone Related to Birth C90259 NICHD Terminology C102977 Meconium Peritonitis Meconium Peritonitis Inflammation of the peritoneum caused by an intrauterine intestinal perforation leading to presence of meconium within the fetal peritoneal cavity. This is frequently seen as intra-abdominal calcifications on imaging. Inflammation of the peritoneum caused by an intrauterine intestinal perforation leading to presence of meconium within the fetal peritoneal cavity. This is frequently seen as intra-abdominal calcifications on imaging. C26726 Infectious Disorder C90259 NICHD Terminology C102979 Congenital Hydronephrosis Congenital Hydronephrosis Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces that is present at birth. C98885 Congenital Urinary System Abnormality C90259 NICHD Terminology C102984 Congenital Ileal Stenosis Congenital Ileal Stenosis Narrowing of the lumen of the ileum that is present at birth. C97171 Congenital Gastrointestinal Disorder C90259 NICHD Terminology C102985 Congenital Jejunal Stenosis Congenital Jejunal Stenosis Narrowing of the lumen of the jejunum that is present at birth. C97171 Congenital Gastrointestinal Disorder C90259 NICHD Terminology C102986 Somatotropin Deficiency Somatotropin Deficiency Abnormally low levels of circulating somatotropin. C3009 Endocrine System Disorder C90259 NICHD Terminology C102987 Testosterone Biosynthesis Deficiency Testosterone Biosynthesis Deficiency Inadequate production of circulating testosterone. C27019 Male Reproductive System Disorder C90259 NICHD Terminology C102990 Brachial Plexus Palsy Related to Birth Brachial Plexus Palsy Related to Birth Brachial Plexus Palsy due to Birth Trauma Birth injury to the brachial plexus. It results in paralysis of the muscles of the shoulder, arm, and hand. It manifests as lack of mobility in the arm, usually in the first week of life. In the majority of cases there is spontaneous recovery. A condition characterized by reduced or absent movement of the ipsilateral shoulder, arm or hand as a consequence of an injury to the brachial plexus, cervical roots 5 through 8 and thoracic root 1, sustained during the birthing process. C3310 Paralysis C101035 Birth Injury C90259 NICHD Terminology C102993 Bacteremia Bacteremia A laboratory test result that indicates the presence of bacteria in the blood. The presence of bacteria in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C103156 Congenital Phrenic Nerve Injury Congenital Phrenic Nerve Injury Phrenic Nerve Injury, Congenital Damage to the phrenic nerve that is present at birth. An impairment of the function of the phrenic nerve as a consequence of disruption of the nerve itself or its origins in cervical roots 3 through 5 that has occurred before birth. C99016 Phrenic Nerve Injury C27580 Peripheral Nervous System Disorder C90259 NICHD Terminology C103157 Cardiac Compression during Initial Resuscitation Cardiac Compression during Initial Resuscitation An emergency measure on newborns, which requires assistance to begin breathing at birth. Initial resuscitation includes administration of positive-pressure ventilation and chest compressions to empty the ventricles of the heart in an effort to circulate the blood, and also to stimulate the heart so that it will resume its pumping action. C102971 Cardiac Resuscitation C90259 NICHD Terminology C103170 Postnatal Drug Withdrawal Postnatal Drug Withdrawal Withdrawal signs and symptoms that present during the postnatal period and are caused by drug use by the pregnant mother. C89328 Pediatric Disorder C35046 Drug Withdrawal C90259 NICHD Terminology C103171 Recurrent Laryngeal Nerve Injury Recurrent Laryngeal Nerve Injury Damage to the recurrent laryngeal nerve. C26733 Cranial Nerve Disorder C3671 Injury C90259 NICHD Terminology C103172 Congenital Bleeding Disorder Congenital Bleeding Disorder Congenital Bleeding Defect || Congenital Coagulation Defect A bleeding disorder that is diagnosed during childhood, with the presenting symptom of excessive bleeding. A congenital disorder resulting in excessive bleeding. C104003 Congenital Hematological Disorder C2902 Coagulation Disorder C90259 NICHD Terminology C103183 In Utero Drug Withdrawal In-utero Drug Withdrawal Drug withdrawal symptoms in a fetus following maternal discontinuation or reduction of use of one or more addictive substance(s) that have caused fetal physiological dependence. A substance-abuse withdrawal syndrome in a fetus following maternal discontinuation or reduction of use of one or more addictive substance(s) that have caused fetal physiological dependence. Signs and symptoms are characteristic of withdrawal syndromes and may affect fetal growth. C92719 Fetal Disorder C35046 Drug Withdrawal C90259 NICHD Terminology C103184 Genu Recurvatum Genu Recurvatum Hyperextension Deformity of Knee An abnormal alignment of the knee backwards that is due to a deformity in the knee joint. C110937 Musculoskeletal Finding C90259 NICHD Terminology C103185 Congenital Reproductive System Abnormality Congenital Reproductive System Abnormality Congenital Abnormality of the Reproductive System A disorder that affects the female or male reproductive system and is present at birth. Representative examples include ovarian agenesis, vaginal agenesis, and penile agenesis. C4875 Reproductive System Disorder C35107 Congenital Genitourinary Abnormality C90259 NICHD Terminology C103186 Sexual Differentiation Disorder Differences of Sex Development CARD || Conditions Affecting Reproductive Development || DSD || Disorder of Sexual Differentiation || Disorders of Sex Development || Intersex || Intersex Conditions || Sexual Differentiation Disorder A congenital disorder characterized by abnormalities in the development of the sexual characteristics. Congenital conditions in which there is variation in the number and/or structure of the sex chromosomes, and/or in which the development of gonadal, reproductive, and/or genital structures is atypical. C89330 Developmental Disorder C103185 Congenital Reproductive System Abnormality C90259 NICHD Terminology C103187 Perinatal Subependymal Hemorrhage with Intraventricular and Intracerebral Extension Perinatal Subependymal Hemorrhage with Intraventricular and Intracerebral Extension A hemorrhage that involves the subependymal region, the lateral cerebral ventricles and the brain tissue occurring around the time of birth. A hemorrhage that involves the subependymal region, the lateral cerebral ventricles and the brain tissue occurring around the time of birth. C117201 Perinatal Subependymal Hemorrhage C90259 NICHD Terminology C103188 Acquired Phrenic Nerve Injury Acquired Phrenic Nerve Injury Phrenic Nerve Injury, Acquired Damage to the phrenic nerve that was not present at birth. An impairment of the function of the phrenic nerve as a consequence of disruption of the nerve itself or its origins in cervical roots 3 through 5 that has occurred after birth. C99016 Phrenic Nerve Injury C27580 Peripheral Nervous System Disorder C90259 NICHD Terminology C103189 Acquired Phrenic Nerve Palsy Acquired Phrenic Nerve Palsy Damage to the phrenic nerve that results in paralysis of the hemidiaphragm and was not present at birth. A condition characterized by reduced or absent movement of the ipsilateral diaphragm as a consequence of an injury to the phrenic nerve or its origin in cervical roots 3 through 5 that has occurred after birth. C27580 Peripheral Nervous System Disorder C90259 NICHD Terminology C103190 Perinatal Respiratory Distress Perinatal Respiratory Distress A pathological increase in the effort and frequency or breathing movements during the perinatal period. C26871 Respiratory System Disorder C35095 Perinatal Disorder C90259 NICHD Terminology C103191 Perinatal Cyanotic Attack Perinatal Cyanotic Attack Episodes of cyanosis during the perinatal period. C26737 Cyanosis C35095 Perinatal Disorder C90259 NICHD Terminology C103225 Ischemic Necrosis Ischemic Necrosis Loss of vascularization and tissue death caused by the disruption in the arterial access. Common causes include trauma due to accidents, insect or reptile bites, severe cold exposure or pathological conditions such as infarctions or blood dyscrasias. C9229 Systemic Disorder C90259 NICHD Terminology C103226 Pulmonary Trunk Hypoplasia Pulmonary Trunk Hypoplasia Underdeveloped pulmonary arteries. C99137 Great Vessels Abnormality C98882 Congenital Lung Malformation C90259 NICHD Terminology C103228 Perinatal Jaundice Related to Inspissated Bile Syndrome Perinatal Jaundice due to Inspissated Bile Syndrome Perinatal Jaundice Related to Inspissated Bile Syndrome Yellow pigmentation of the skin, mucous membranes and eyes due to hyperbilirubinemia caused by inspissated bile plugs in the bile ducts during the perinatal period. Yellow pigmentation of the skin, mucous membranes and sclerae due to hyperbilirubinemia associated with intraluminal bile plugs, sludge or gallstones in the newborn infant. C3143 Jaundice C90259 NICHD Terminology C103231 Brachial Plexus Injury Brachial Plexus Injury Damage to the nerves in the brachial plexus network. These nerves originate in the spinal column and innervate the shoulder, arm and hand. Often, damage is sustained from overstretching or motor vehicle accidents. C27580 Peripheral Nervous System Disorder C3671 Injury C90259 NICHD Terminology C103233 Cystic Fibrosis with Meconium Ileus Cystic Fibrosis with Meconium Ileus A congenital metabolic detected in the neonatal period that is characterized by the presence of a meconium ileus. The disease affects the exocrine glands andis inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather. C2975 Cystic Fibrosis C90259 NICHD Terminology C103236 Fetal Neurodevelopmental Disorder Fetal Neurodevelopmental Disorder A fetal affliction that has a neurological basis and manifests as a developmental disability. C89338 Neurodevelopmental Disorder C92719 Fetal Disorder C90259 NICHD Terminology C103266 Congenital Aortic Arch Hypoplasia Congenital Aortic Arch Hypoplasia Congenital Hypoplasia of Aortic Arch An underdeveloped aortic arch that is present at birth. This symptom is usually found in association with other cardiac defects that characterize left heart syndrome. C99137 Great Vessels Abnormality C90259 NICHD Terminology C103845 Hemoglobin Variant Measurement Hemoglobin Variant Measurement A test to measure the variants of hemoglobin. C64848 Hemoglobin Measurement C90259 NICHD Terminology C103917 Right Aortic Arch Right Aortic Arch An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided. A congenital anomaly in which the aorta is displaced to the right and passes behind the esophagus, thus forming a vascular ring that may cause compression of the trachea and esophagus. C99137 Great Vessels Abnormality C90259 NICHD Terminology C103918 Microcystic Renal Disease Microcystic Renal Disease A congenital renal disorder characterized by the presence of small cysts in the renal cortex and/or renal medulla. C34750 Cystic Kidney Disease C90259 NICHD Terminology C103919 Solitary Multilocular Kidney Cyst Solitary Multilocular Renal Cyst A single cyst in the kidney with several compartments. C3149 Kidney Disease C2978 Cyst C90259 NICHD Terminology C103920 Hemoglobin Barts Hemoglobin Barts Bart's Hemoglobinopathy A severe and rare form of alpha thalassemia characterized by the absence of alpha globin chains. It results in hydrops fetalis, severe anemia, hepatosplenomegaly, heart defects, and genitourinary abnormalities. It leads to death in utero or shortly thereafter. C34368 Alpha Thalassemia C90259 NICHD Terminology C103921 Lissencephaly Lissencephaly A rare genetic brain malformation characterized by smooth folds and grooves in the brain. There are approximately 20 different types of lissencephaly that are identified by various symptoms. A brain malformation characterized by smooth folds and grooves in the brain. C97172 Congenital Nervous System Disorder C90259 NICHD Terminology C103922 Congenital Hydroureter Congenital Hydroureter Dilatation of the ureter caused by obstruction of urine flow that is present at birth. C98885 Congenital Urinary System Abnormality C90259 NICHD Terminology C103923 Congenital Postural Scoliosis Congenital Postural Scoliosis Abnormal sideways curvature of the spine that is present at birth. C89337 Congenital Musculoskeletal Defect C78603 Scoliosis C90259 NICHD Terminology C103935 Congenital Pulmonary Valve Insufficiency Congenital Pulmonary Valve Insufficiency Congenital Insufficiency of Pulmonary Valve || Congenital Pulmonary Insufficiency Dysfunction of the pulmonary valve characterized by incomplete valve closure that is present at birth. C45525 Valvular Heart Disorder C95834 Congenital Heart Disease C90259 NICHD Terminology C103936 Congenital Aortic Valve Insufficiency Congential Aortic Valve Insufficiency Congenital Aortic Insufficiency || Congenital Insufficiency of Aortic Valve Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth. C45525 Valvular Heart Disorder C95834 Congenital Heart Disease C90259 NICHD Terminology C103956 Coloboma of the Retina Coloboma of Retina A congenital or acquired defect characterized by the presence of a hole in the retina. C26875 Retinal Disorder C90259 NICHD Terminology C103968 Pyruvate Dehydrogenase Deficiency Pyruvate Dehydrogenase Deficiency A genetic disorder caused by mutations in the genes that are responsible for production of protein components of the pyruvate dehydrogenase complex. It may present with lactic acidosis. Signs and symptoms include developmental delays, seizures and hypotonia. C3492 Enzyme Deficiency C90259 NICHD Terminology C104003 Congenital Hematological Disorder Congenital Hematological Disorder A disorder of the blood that is present at birth. C26323 Hematologic Disorder C2849 Congenital Malformation C90259 NICHD Terminology C106273 ABO Hemolytic Disease of the Newborn ABO Hemolytic Disease of Newborn ABO Isoimmunization || Hemolytic Disease due to ABO Isoimmunization A condition of the newborn characterized by the destruction of red blood cells initiated by the transmission of anti-A or anti-B antibodies from a mother to the child via the placenta against A or B antigens of the newborn's blood. A condition of the newborn characterized by the destruction of red blood cells initiated by the transmission of anti-A or anti-B antibodies from a mother to the child via the placenta against A or B antigens of the newborn's blood. C101304 Hemolytic Disease of the Newborn C90259 NICHD Terminology C106399 Nasoduodenal Tube Nasoduodenal Tube A hollow tube that is directed into the duodenum from the nose. C62103 Device C90259 NICHD Terminology C107101 Anaphylaxis Anaphylaxis An acute hypersensitive immune response that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting. An acute, severe multi-systemic allergic reaction that may include itching, hives, angioedema, abdominal pain, vomiting, diarrhea, breathing and swallowing difficulties, and hypotension which may progress to shock and death. C9229 Systemic Disorder C90259 NICHD Terminology C107102 Agranulocytosis Agranulocytosis A marked decrease in the number of mature granulocytes (most often neutrophils) in the peripheral blood. Severely low level of granulocytic white blood cells, particularly neutrophils, in the blood due to destruction of circulating cells or failed production by the bone marrow. C36292 Laboratory Test Result C90259 NICHD Terminology C107376 Pediatric Non-Congenital Ventricular Tachycardia Pediatric Non-congenital Ventricular Tachycardia A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin that was not present at birth in an individual under age 21. The QRS complexes are wide and have an abnormal morphology. C26924 Ventricular Arrhythmia C90259 NICHD Terminology C107377 Musculoskeletal Disorder Musculoskeletal System Disorder Disorder of Musculoskeletal System A non-neoplastic or neoplastic disorder that affects muscles and bones. C2991 Disease or Disorder C90259 NICHD Terminology C110923 Chorioretinitis Chorioretinitis Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision. A form of posterior uveitis in which the choroid and retina are inflamed. C115993 Retinitis C90259 NICHD Terminology C110927 Physiologic Hyperbilirubinemia Physiologic Hyperbilirubinemia Physiological Hyperbilirubinemia Elevated bilirubin levels in the blood of a newborn infant. It is a normal response due to the limited ability to excrete bilirubin until the maturation of the neonatal liver is complete. Non-pathologic rise in bilirubin levels in the blood of a newborn infant, typically occurring within the first week of life, due to the limited ability to conjugate and excrete bilirubin. C99235 Neonatal Hyperbilirubinemia C90259 NICHD Terminology C110936 Toxic Methemoglobinemia with Cyanosis Toxic Methemoglobinemia with Cyanosis Blue skin coloration due to elevated blood levels of methemoglobin. The degree of cyanosis is directly correlated to the concentration of methemoglobin in the blood. As methemoglobin is not suitable for carrying oxygen, hypoxemia becomes a serious sequela. C98805 Acquired Methemoglobinemia C90259 NICHD Terminology C110937 Musculoskeletal Finding Musculoskeletal Finding Symptoms, physical examination results, and/or laboratory rest results related to the muscles and bones. C3367 Finding C90259 NICHD Terminology C110938 Tachyarrhythmia Tachyarrhythmia A disorder characterized by an arrhythmia with an above normal rate. Tachyarrhythmia is any disturbance of the heart rhythm in which the heart rate is abnormally increased. C2881 Arrhythmia C90259 NICHD Terminology C110939 Plantar Grasp Reflex Plantar Grasp Reflex Finding A newborn reflex that is characterized by flexion of the toes when the sole of the foot is stroked. C81181 Infant Reflex C90259 NICHD Terminology C110940 Panhypopituitarism Panhypopituitarism Complete Hypopituitarism Insufficient production of all the anterior pituitary hormones. A deficiency of all anterior pituitary hormones, without necessary involvement of the hormones of the posterior pituitary gland (oxytocin and vasopressin). C3009 Endocrine System Disorder C90259 NICHD Terminology C110941 Allantoic Cyst Allantoic Cyst An umbilical cyst that arises from allantoic tissue that did not regress during gestational development. Most cases involve a patent urachus that allows for communication to the urinary bladder. C2978 Cyst C90259 NICHD Terminology C110942 Congenital Anomaly of Pulmonary Veins Congenital Anomaly of Pulmonary Veins Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium. C99137 Great Vessels Abnormality C90259 NICHD Terminology C111117 Arterial Embolus Arterial Embolism The passage of an embolus from its site of formation in the arterial system to another location within the circulatory system. The passage of an embolus from its site of formation in the arterial system to another location within in the circulatory system C26759 Embolism C90259 NICHD Terminology C111118 Atrial Thrombus Atrial Thrombus Presence of a blood clot in the atria of the heart. Presence of a thrombus within a cardiac atrium. C27083 Thrombus C90259 NICHD Terminology C111119 AV Block Second Degree Atrioventricular Block, Second Degree AV Block Second Degree Intermittent failure of atrial electrical impulse conduction to the ventricles. Intermittent failure of atrial electrical impulse conduction to the ventricles. C2881 Arrhythmia C90259 NICHD Terminology C111642 Device Embolization Device Embolization Movement of a medical device to an unintended location within the body with resulting obstruction of an organ or vessel. Migration of a medical device to an unintended location with or without obstruction. C26759 Embolism C90259 NICHD Terminology C111644 Hemopericardium Hemopericardium An accumulation of blood within the pericardial sac. An accumulation of blood within the pericardial sac. C101327 Pericardial Anomaly C90259 NICHD Terminology C111645 Inferior Vena Cava Stenosis Inferior Vena Cava Stenosis Abnormal narrowing of the lumen of the inferior vena cava. Abnormal narrowing of the lumen of the inferior vena cava. C99137 Great Vessels Abnormality C90259 NICHD Terminology C111646 Junctional Ectopic Tachycardia Junctional Ectopic Tachycardia A tachycardia originating in or adjacent to the AV junction. A tachycardia originating in or adjacent to the AV junction. C110938 Tachyarrhythmia C90259 NICHD Terminology C111648 Polymorphic Ventricular Tachycardia Polymorphic Ventricular Tachycardia A ventricular tachycardia that is irregular in rate and rhythm. A ventricular tachycardia that is irregular in rate and rhythm. C26924 Ventricular Arrhythmia C90259 NICHD Terminology C111649 Post-Pericardiotomy Syndrome Post-Pericardiotomy Syndrome An inflammatory disorder of the pericardium and pleura seen as a post-operative complication of cardiovascular surgery. An inflammatory disorder of the pericardium and pleura seen as a post-operative complication of cardiovascular surgery. C101327 Pericardial Anomaly C90259 NICHD Terminology C111650 Prosthetic Valve Dysfunction Prosthetic Valve Dysfunction Malfunction of a surgically-placed cardiac valve related to the valve itself or the area around the valve. Malfunction of a surgically-placed cardiac valve related to the valve itself or the area around the valve. C45525 Valvular Heart Disorder C90259 NICHD Terminology C111651 Pulmonary Vein Obstruction Pulmonary Vein Obstruction Blockage of the lumen of the pulmonary vein. Blockage of the lumen of the pulmonary vein. C99137 Great Vessels Abnormality C90259 NICHD Terminology C111652 Vascular Shunt Thrombosis Shunt Thrombosis The presence of a thrombus within a vascular shunt. Presence of a thrombus within a vascular shunt. C26891 Thrombosis C90259 NICHD Terminology C111653 Superior Vena Cava Stenosis Superior Vena Cava Stenosis Abnormal narrowing of the lumen of the superior vena cava. Abnormal narrowing of the lumen of the superior vena cava. C99137 Great Vessels Abnormality C90259 NICHD Terminology C111654 Venous Embolism Venous Embolism The passage of an embolus from its site of formation to another location within the venous system. The passage of an embolus from its site of formation to another location within the venous system. C26759 Embolism C90259 NICHD Terminology C111655 Ventricular Dysfunction Ventricular Dysfunction Impairment of the ventricle to either fill or eject adequately. Impairment of the ventricle to either fill or eject adequately. C3079 Heart Disorder C90259 NICHD Terminology C111656 Twin Reversed Arterial Perfusion Sequence Malformation Twin Reversed Arterial Perfusion Sequence Malformation Acardiac Malformation || Acardiac Twin || TRAP Sequence A severe form of twin-twin transfusion syndrome that occurs in monochorionic pregnancies. The normal twin (pump twin) supplies the blood flow to its sibling that lacks heart or brain or both (acardiac/acephalic twin). Untreated, it may lead to the demise of the pump twin in some cases. A condition which occurs in monozygotic twins in which one of the fetuses supplies the majority of the cardiac output to its co-twin through its umbilical artery. The recipient twin has only rudimentary organs and structure and is not viable. C92719 Fetal Disorder C90259 NICHD Terminology C111657 Desquamation Desquamation Shedding of the outer layer of skin or mucosal tissue. Mild, superficial peeling or shedding of skin. C36281 Integumentary System Finding C90259 NICHD Terminology C111658 Rigor Rigor Severe chills accompanied by vigorous shaking. Severe chills accompanied by vigorous shaking. C100104 Sign or Symptom C90259 NICHD Terminology C111659 Poor Weight Gain Poor Weight Gain Failure to Gain Weight || Inadequate Weight Gain || Low Weight Gain Slower than normal rate of weight increase. Slower than normal rate of weight increase. C100104 Sign or Symptom C90259 NICHD Terminology C111756 Absent Fetal Heart Rate Variability Absent Baseline Variability A baseline fetal heart rate with an undetectable amplitude range. A baseline fetal heart rate with an undetectable amplitude range. C92790 Fetal Heart Rate Variability C90259 NICHD Terminology C111765 Marked Baseline Fetal Heart Rate Variability Marked Baseline Fetal Heart Rate Variability Exaggerated Baseline Variability || Hypervariability || Marked Baseline Variability A baseline fetal heart rate with an amplitude range that is greater than 25 beats per minute. A baseline fetal heart rate with an amplitude range that is greater than 25 beats per minute. C92790 Fetal Heart Rate Variability C90259 NICHD Terminology C111766 Fetal Arrhythmia Fetal Arrhythmia A variation from the normal heart rhythm in a fetus. A variation from the normal heart rhythm in a fetus. C92715 Fetal Heart Finding C90259 NICHD Terminology C111767 Minimal Baseline Fetal Heart Rate Variability Minimal Baseline Fetal Heart Rate Variability Minimal Baseline Variability A baseline fetal heart rate with a detectable amplitude range that is greater than undetectable but less than or equal to five beats per minute. A baseline fetal heart rate with a detectable amplitude range that is greater than undetectable but less than or equal to five beats per minute. C92790 Fetal Heart Rate Variability C90259 NICHD Terminology C111768 Sinusoidal Fetal Heart Rate Pattern Sinusoidal Fetal Heart Rate Pattern A fetal heart rate pattern characterized by a smooth, sine wave-like undulating pattern with a cycle frequency of 3 to 5 beats per minute that continues for at least 20 minutes or more. A fetal heart rate pattern characterized by a smooth, sine wave-like undulating pattern with a cycle frequency of 3 to 5 beats per minute that continues for at least 20 minutes or more. C92715 Fetal Heart Finding C90259 NICHD Terminology C111769 Fetal Tachyarrhythmia Fetal Tachyarrhythmia An abnormality in the fetal heart rhythm associated with an increase in fetal heart rate above 160 beats per minute. An abnormality in the fetal heart rhythm associated with an increase in fetal heart rate above 160 beats per minute. C92796 Fetal Tachycardia C90259 NICHD Terminology C111770 Fetal Bradyarrhythmia Fetal Bradyarrhythmia An abnormality in the fetal heart rhythm associated with a decrease in fetal heart rate below 110 beats per minute. An abnormality in the fetal heart rhythm associated with an decrease in fetal heart rate below 110 beats per minute. C92782 Fetal Bradycardia C90259 NICHD Terminology C111771 Normal Continuous Cardiotocography Pattern Category I Tracing Normal Continuous Cardiotocography Pattern Normal fetal heart pattern. Strongly predictive of normal acid-base status at time of observation. Characterized by baseline fetal heart rate 110 to 160 beats per minute, moderate baseline variability, absent late or variable decelerations, absent or present early decelerations, and absent or present accelerations. Normal fetal heart pattern. Strongly predictive of normal acid-base status at time of observation. Characterized by baseline fetal heart rate 110 to 160 beats per minute, moderate baseline variability, absent late or variable decelerations, absent or present early decelerations, and absent or present accelerations. C92715 Fetal Heart Finding C90259 NICHD Terminology C111772 Indeterminate Continuous Cardiotocography Pattern Category II Tracing Indeterminate Continuous Cardiotocography Pattern Indeterminate fetal heart rate pattern. Not predictive of abnormal acid-base status at time of observation but insufficient to classify pattern as Category I or III. Example patterns include: minimal or marked variability, absent variability without recurrent decelerations, absence of induced accelerations after fetal stimulation, recurrent variable decelerations with minimal or moderate variability, prolonged decelerations, recurrent late decelerations with moderate variability and variable decelerations with slow return to baseline, overshoots or shoulders. Indeterminate fetal heart rate pattern. Not predictive of abnormal acid-base status at time of observation but insufficient to classify pattern as Category I or III. Example patterns include: minimal or marked variability, absent variability without recurrent decelerations, absence of induced accelerations after fetal stimulation, recurrent variable decelerations with minimal or moderate variability, prolonged decelerations, recurrent late decelerations with moderate variability and variable decelerations with slow return to baseline, overshoots or shoulders. C92715 Fetal Heart Finding C90259 NICHD Terminology C111773 Abnormal Continuous Cardiotocography Pattern Category III Tracing Abnormal Continuous Cardiotocography Pattern Abnormal fetal heart rate pattern. Predictive of abnormal acid-base status at time of observation. Patterns include sinusoidal pattern or absent fetal heart rate variability with any of the following: recurrent late decelerations, recurrent variable decelerations, or bradycardia. Abnormal fetal heart rate pattern. Predictive of abnormal acid-base status at time of observation. Patterns include sinusoidal pattern or absent fetal heart rate variability with any of the following: recurrent late decelerations, recurrent variable decelerations, or bradycardia. C92715 Fetal Heart Finding C90259 NICHD Terminology C111775 Periodic Fetal Heart Rate Pattern Periodic Fetal Heart Rate Pattern Fetal heart rate patterns associated with maternal uterine contractions. Fetal heart rate patterns associated with maternal uterine contractions. C92715 Fetal Heart Finding C90259 NICHD Terminology C111776 Episodic Fetal Heart Rate Pattern Episodic Fetal Heart Rate Pattern Fetal heart rate patterns not associated with maternal uterine contractions. Fetal heart rate patterns not associated with maternal uterine contractions. C92715 Fetal Heart Finding C90259 NICHD Terminology C111777 Moderate Baseline Fetal Heart Rate Variability Moderate Baseline Variability A baseline fetal heart rate with a detectable amplitude range that is greater than or equal to 6 but less than or equal to 25 beats per minute. A baseline fetal heart rate with a detectable amplitude range that is greater than or equal to 6 but less than or equal to 25 beats per minute. C92790 Fetal Heart Rate Variability C90259 NICHD Terminology C111778 Recurrent Variable Fetal Heart Rate Deceleration Recurrent Variable Fetal Heart Rate Decelerations Variable decelerations that occur with greater than or equal to 50 percent of uterine contractions. They are usually associated with umbilical cord compression. Variable decelerations that occur with greater than or equal to 50 percent of uterine contractions. They are usually associated with umbilical cord compression. C92790 Fetal Heart Rate Variability C90259 NICHD Terminology C111779 Ductus Venosus Agenesis Ductus Venosus Agenesis Congenital absence of the fetal ductus venosus. Congenital absence of the fetal ductus venosus. C35729 Congenital Cardiovascular Abnormality C90259 NICHD Terminology C111780 Antepartum Obstetric Air Embolism Antepartum Obstetric Air Embolism Presence of a large air bubble in the maternal vascular system which originated from a distant site during the antepartum period. Presence of a large air bubble in the maternal vascular system which originated from a distant site during the antepartum period. C34941 Pregnancy Complication C90259 NICHD Terminology C111781 Postpartum Obstetric Air Embolism Postpartum Obstetric Air Embolism Presence of a large air bubble in the maternal vascular system which originated from a distant site during the postpartum period. Presence of a large air bubble in the maternal vascular system which originated from a distant site during the postpartum period. C116323 Postpartum Complication C90259 NICHD Terminology C111782 Antepartum Obstetric Septic Embolism Antepartum Obstetric Septic Embolism Presence of bacterially-infected tissue in the maternal vascular system which originated from a distant site during the antepartum period. Presence of bacterially-infected tissue in the maternal vascular system which originated from a distant site during the antepartum period. C34941 Pregnancy Complication C90259 NICHD Terminology C111783 Antepartum Obstetric Thromboembolism Antepartum Obstetric Thromboembolism Presence of a blood clot in the maternal vascular system which originated from a distant site during the antepartum period. Presence of a blood clot in the maternal vascular system which originated from a distant site during the antepartum period. C34941 Pregnancy Complication C90259 NICHD Terminology C111815 Shakes Shakiness Unsteadiness or trembling movements of the whole body or a body part. Unsteadiness or trembling movements of the whole body or a body part. C100104 Sign or Symptom C90259 NICHD Terminology C111817 Hyperpyrexia Hyperpyrexia Extreme elevation of body temperature above normal. Extreme elevation of body temperature above normal. C50589 Hyperthermia C90259 NICHD Terminology C111853 Sudden Unexplained Infant Death Sudden Unexplained Infant Death Unexpected death of an infant less than one year of age, whose cause of death is not immediately obvious prior to investigation. Unexpected death of an infant less than one year of age, whose cause of death is not immediately obvious prior to investigation. C89328 Pediatric Disorder C90259 NICHD Terminology C111854 Sudden Unexplained Death in Childhood Sudden Unexplained Death in Childhood Unexpected death of a child over one year of age, which remains unexplained when all known and possible causes of death have been ruled out. Unexpected death of a child over one year of age, which remains unexplained when all known and possible causes of death have been ruled out. C89328 Pediatric Disorder C90259 NICHD Terminology C111855 Neonatal Neutropenia Neonatal Neutropenia A condition characterized by a decrease in the number of neutrophils in the blood below established reference ranges in a newborn. A condition characterized by a decrease in the number of neutrophils in the blood below established reference ranges in a newborn. C80520 Neutropenia C90259 NICHD Terminology C111856 Disseminated Intravascular Coagulation in Newborn Neonatal Disseminated Intravascular Coagulation Disseminated Intravascular Coagulation in Newborn A clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn. A clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn. C2992 Disseminated Intravascular Coagulation C90259 NICHD Terminology C111857 Hemorrhagic Disease of Newborn Hemorrhagic Disease of Newborn Vitamin K Deficiency Bleeding in Newborn A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver. A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver. C98996 Neonatal Disorder C90259 NICHD Terminology C111858 Direct Maternal Death Direct Maternal Death Death resulting from conditions or complications which are unique to pregnancy and occur during the antepartum, intrapartum, or postpartum period. Death resulting from conditions or complications which are unique to pregnancy and occur during the antepartum, intrapartum, or postpartum period. C111860 Maternal Mortality C90259 NICHD Terminology C111859 Indirect Maternal Death Indirect Maternal Death Death resulting from previously existing disease or a disease developing during pregnancy which was not associated with gestation, but which was aggravated by the unique physiologic changes of pregnancy. Examples of indirect deaths include those associated with epilepsy, diabetes, cardiac disease and hormone-dependent malignancies. Death resulting from previously existing disease or a disease developing during pregnancy which was not associated with gestation, but which was aggravated by the unique physiologic changes of pregnancy. Examples of indirect deaths include those associated with epilepsy, diabetes, cardiac disease and hormone-dependent malignancies. C111860 Maternal Mortality C90259 NICHD Terminology C111860 Maternal Mortality Maternal Mortality The death of a woman while pregnant or within 42 days of the end of the pregnancy, irrespective of the duration or anatomic site of the pregnancy, due to any cause related to or aggravated by the pregnancy or its management, but not from accidental or incidental causes. The death of a woman while pregnant or within 42 days of the end of the pregnancy, irrespective of the duration or anatomic site of the pregnancy, due to any cause related to or aggravated by the pregnancy or its management, but not from accidental or incidental causes. C34941 Pregnancy Complication C90259 NICHD Terminology C111861 Postpartum Obstetric Septic Embolism Postpartum Obstetric Septic Embolism Presence of bacterially-infected tissue in the maternal vascular system which originated from a distant site during the postpartum period. Presence of bacterially-infected tissue in the maternal vascular system which originated from a distant site during the postpartum period. C116323 Postpartum Complication C90259 NICHD Terminology C111865 Postpartum Obstetric Thromboembolism Postpartum Obstetric Thromboembolism Presence of a blood clot in the maternal vascular system which originated from a distant site during the postpartum period. Presence of a blood clot in the maternal vascular system which originated from a distant site during the postpartum period. C116323 Postpartum Complication C90259 NICHD Terminology C111884 Exanthem Exanthem A widespread, acute rash. A widespread, acute rash. C36281 Integumentary System Finding C90259 NICHD Terminology C111885 Dermatographism Dermatographism A raised, inflamed skin reaction to pressure from rubbing or scratching. A raised, inflamed skin reaction to pressure from rubbing or scratching. C36281 Integumentary System Finding C90259 NICHD Terminology C111886 Diaper Dermatitis Diaper Dermatitis Diaper Rash || Nappy Rash An inflammatory skin condition in the diaper area that may be caused by irritation or infection. An inflammatory skin condition in the diaper area that may be caused by irritation or infection. C3371 Skin Disorder C90259 NICHD Terminology C111887 Candida Diaper Dermatitis Candida Diaper Dermatitis Candida Diaper Rash || Candida Nappy Rash An inflammatory skin condition in the diaper area superimposed with Candida infection, characterized by a bright red rash with a sharply demarcated edge and satellite lesions. Skin folds are often involved. An inflammatory skin condition in the diaper area superimposed with Candida infection, characterized by a bright red rash with a sharply demarcated edge and satellite lesions. Skin folds are often involved. C3371 Skin Disorder C90259 NICHD Terminology C111888 Seborrheic Dermatitis Seborrheic Dermatitis Cradle Cap || Seborrhea || Seborrheic Eczema A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching. A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching. C3371 Skin Disorder C90259 NICHD Terminology C111904 Immune Hydrops Fetalis Immune Hydrops Fetalis Fluid accumulation in multiple fetal anatomic cavities attributable to a maternal immune response against fetal blood cell antigens. Fluid accumulation in multiple fetal anatomic cavities attributable to a maternal immune response against fetal blood cell antigens. C84767 Hydrops Fetalis C90259 NICHD Terminology C111905 Non-Immune Hydrops Fetalis Non-Immune Hydrops Fetalis Fluid accumulation in multiple fetal anatomic cavities that is of non-immune origin. Fluid accumulation in multiple fetal anatomic cavities that is of non-immune origin. C84767 Hydrops Fetalis C90259 NICHD Terminology C111908 Angiotensin Converting Enzyme Inhibitor Fetopathy Angiotensin Converting Enzyme Inhibitor Fetopathy ACE Fetopathy || ACE Inhibitor Fetopathy Fetal embryopathy associated with maternal angiotensis converting enzyme (ACE) inhibitor use during pregnancy that may include fetal acute renal failure, growth restriction, oligohydramnios, calvaria abnormalities, preterm birth, and pulmonary hypoplasia with respiratory distress. Fetal embryopathy associated with maternal ACE inhibitor use that may include growth restriction, oligohydramnios, calvaria abnormalities, preterm birth, pulmonary hypoplasia and acute kidney injury. C92719 Fetal Disorder C90259 NICHD Terminology C111909 Diabetic Fetopathy Diabetic Fetopathy A constellation of features seen in the hyperinsulinemic fetus of a diabetic mother that include macrosomia, postnatal hypoglycemia and polycythemia. A constellation of features seen in the hyperinsulinemic fetus of a diabetic mother that include macrosomia, postnatal hypoglycemia and polycythemia. C92719 Fetal Disorder C90259 NICHD Terminology C111910 Fetal Virilization Fetal Virilization Fetal Virilism Inappropriate secondary sex characteristics in the neonate usually due to in utero androgen exposure. The development of male secondary sexual characteristics in a biologically female fetus that is most often due to in utero exposure to androgens. C92711 Fetal Finding C79859 Virilization C90259 NICHD Terminology C111911 Amniotic Fluid Embolism Amniotic Fluid Embolism Amniotic Fluid Embolism Syndrome Acute hypotension or cardiac arrest, acute hypoxia or coagulopathy in the absence of any other potential explanation related to the presence of amniotic fluid or the fetal debris within the maternal vascular system during the antepartum or intrapartum period. Acute hypotension or cardiac arrest, acute hypoxia or coagulopathy in the absence of any other potential explanation related to the presence of amniotic fluid or the fetal debris within the maternal vascular system during the antepartum or intrapartum period. C34941 Pregnancy Complication C90259 NICHD Terminology C111913 Pre-Gestational Diabetes Pregestational Diabetes Pre-Gestational Diabetes Diabetes diagnosed before current pregnancy. (reVITALize) Diabetes diagnosed before current pregnancy. [verbatim from reVITALize] C34942 Gestational Diabetes Mellitus C90259 NICHD Terminology C111914 Postpartum Endometritis Postpartum Endometritis Puerperal Endometritis || Puerperal Endomyometritis Infection of the endometrium, decidua and/or myometrium occurring at any time between birth and 42 days postpartum. Infection of the endometrium, decidua and/or myometrium occurring at any time between birth and 42 days postpartum. C116323 Postpartum Complication C90259 NICHD Terminology C111915 Severe Sepsis Severe Sepsis Sepsis with Organ Dysfunction Clinical syndrome defined by the presence of both infection and a systemic inflammatory response that progresses to multi-organ failure. Clinical syndrome defined by the presence of both infection and a systemic inflammatory response that progresses to multi-organ failure. C3364 Sepsis C90259 NICHD Terminology C111943 Clinical Chorioamnionitis Clinical Chorioamnionitis Inflammation of the fetal sac membranes, characterized by otherwise unexplained fever (at or above 38 degree C (100.4F)) with one or more of the following: uterine tenderness and/or irritability, leukocytosis, fetal tachycardia, maternal tachycardia, or malodorous vaginal discharge. Inflammation of the fetal sac membranes, characterized by otherwise unexplained fever (at or above 38 degrees C (100.4F)) with one or more of the following: uterine tenderness and/or irritability, leukocytosis, fetal tachycardia, maternal tachycardia, or malodorous vaginal discharge. C26720 Chorioamnionitis C90259 NICHD Terminology C111944 Histologic Chorioamnionitis Histologic Chorioamnionitis Acute Amnionitis || Acute Chorioamnionitis || Acute Choriodeciduitis || Acute Chorionitis Inflammation of the fetal sac membranes that is characterized by neutrophilic infiltration of the amnion and chorion. A maternal neutrophilic response resulting in migration of neutrophils from the decidua into the chorion and amnion of the extraplacental membranes and the chorionic plate. C26720 Chorioamnionitis C90259 NICHD Terminology C111945 Deciduitis Deciduitis Acute inflammation characterized by neutrophilic infiltration of the decidua. Acute inflammation characterized by neutrophilic infiltration of the decidua. C35169 Pregnancy Disorder C90259 NICHD Terminology C111946 Group B Streptococcus Risk Group B Streptococcus Risk Status GBS Risk Status Categorization for likelihood of perinatal transmission of group B Streptococcus to neonate. Categorization for likelihood of perinatal transmission of Group B Streptococcus to neonate. C36292 Laboratory Test Result C90259 NICHD Terminology C111947 Positive GBS Risk Status Positive Group B Streptococcus Risk Status Positive GBS Risk Status Rectal/vaginal culture positive for group B Streptococcus (GBS) within 5 weeks. Rectal/vaginal culture positive within 5 weeks prior to birth, or urine GBS culture positive (as defined by CDC) or GBS bacteriuria at any point in current pregnancy, or prior infant with invasive GBS disease. [verbatim from reVITALize] C111946 Group B Streptococcus Risk Status C90259 NICHD Terminology C111948 Negative GBS Risk Status Negative Group B Streptococcus Risk Status Negative GBS Risk Status Rectal/vaginal culture negative for group B Streptococcus (GBS) within 5 weeks. Rectal/vaginal culture negative within 5 weeks prior to birth, or urine GBS culture negative (as defined by CDC). [based on reVITALize def for +GBS Risk Status] C111946 Group B Streptococcus Risk Status C90259 NICHD Terminology C111949 Unknown GBS Risk Status Unknown Group B Streptococcus Risk Status Unknown GBS Risk Status Rectal/vaginal culture not taken within 5 weeks prior to birth, or urine GBS culture not taken. Rectal/vaginal culture not taken within 5 weeks prior to birth, or urine GBS culture not taken. [based on reVITALize def for +GBS Risk Status] C111946 Group B Streptococcus Risk Status C90259 NICHD Terminology C111950 Pregnancy with Intrauterine Device Pregnancy with Intrauterine Device IUD Pregnancy Co-existence of an intrauterine pregnancy with an intrauterine device. Co-existence of an intrauterine pregnancy with an intrauterine device. C34941 Pregnancy Complication C90259 NICHD Terminology C111951 Nulliparous Nulliparous A woman with a parity of zero. A woman with a parity of zero. C16955 Parity C90259 NICHD Terminology C111957 Triplet Pregnancy Triplet Pregnancy A pregnancy involving three fetuses. A pregnancy involving three fetuses. C87097 Multiple Gestation C90259 NICHD Terminology C111959 Quadruplet Pregnancy Quadruplet Pregnancy A pregnancy involving four fetuses. A pregnancy involving four fetuses. C87097 Multiple Gestation C90259 NICHD Terminology C111963 Neurodermatitis Neurodermatitis Lichen Simplex Chronicus Skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin. Skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin. C3371 Skin Disorder C90259 NICHD Terminology C111967 Pustular Eruption Pustular Eruption A diffuse or generalized outbreak of numerous pustules. A diffuse or generalized outbreak of numerous pustules. C36281 Integumentary System Finding C90259 NICHD Terminology C111969 Skin Vesicle Vesicle A small (less than 5-10 mm) intraepidermal/subepidermal cavity filled with clear, serosanguineous or cloudy fluid. A small (less than 5 - 10 mm) intraepidermal/subepidermal cavity filled with clear, serosanguineous or turbid fluid. C36281 Integumentary System Finding C90259 NICHD Terminology C111970 Bulla Bulla A large (greater than 5-10 mm) intraepidermal/subepidermal cavity filled with clear, serosanguineous or cloudy fluid. A large (greater than 5 - 10 mm) intraepidermal/subepidermal cavity filled with clear, serosanguineous or turbid fluid. C36281 Integumentary System Finding C90259 NICHD Terminology C111971 Annular Lesion Annular Lesion A ring-shaped skin finding with clear central area. A ring-shaped skin finding with clear central area. C36281 Integumentary System Finding C90259 NICHD Terminology C111972 Targetoid Lesion Targetoid Lesion Iris Lesion A red, edematous ring skin finding that may have a central dusky disk and an erythematous halo. A red, edematous ring skin finding that may have a central dusky disk and an erythematous halo. C36281 Integumentary System Finding C90259 NICHD Terminology C111974 Lichenification Lichenification Thickening and hardening of the skin associated with chronic inflammation or irritation. Thickening and hardening of the skin associated with chronic inflammation or irritation. C36281 Integumentary System Finding C90259 NICHD Terminology C111983 Haploidentical Haploidentical Donor Half-Matched Related Donor || PMRD || Partially-Matched Related Donor A donor who has only one haplotype in common with the recipient. A donor who is related to the transplant recipient, but who is only a partial human leukocyte antigen (HLA) tissue type match. C25190 Person C90259 NICHD Terminology C111986 Fixed Drug Eruption Fixed Drug Eruption Round areas of red-purple reaction in the skin that result after drug exposure; these recur in the same location when the medication is readministered. Round areas of red-purple reaction in the skin that result after drug exposure; these recur in the same location when the medication is readministered. C36281 Integumentary System Finding C90259 NICHD Terminology C111987 Skin Fissure Fissuring Skin Fissure A narrow break in the skin. A narrow break in the skin. C36281 Integumentary System Finding C90259 NICHD Terminology C112019 Surgical Site Infection Surgical Site Infection An infection that occurs at a surgical site within 30 days after an operation. An infection that occurs after surgery in the part of the body where surgery was performed. C128320 Infection C2959 Complication C90259 NICHD Terminology C112110 Skin Sloughing Skin Sloughing Peeling or shedding of skin in sheets. Peeling or shedding of skin in sheets. C36281 Integumentary System Finding C90259 NICHD Terminology C112112 Panniculitis Panniculitis Inflammation of the subcutaneous adipose tissue. Inflammation of the subcutaneous adipose tissue. C36281 Integumentary System Finding C90259 NICHD Terminology C112114 Skin Necrosis Skin Necrosis Death of one or more layers of skin. Death of one or more layers of skin. C36281 Integumentary System Finding C90259 NICHD Terminology C112115 Chronic Decubitus Chronic Decubitus Chronic Decubitus Ulcer || Chronic Pressure Sore || Chronic Pressure Ulcer A longstanding lesion caused by death of tissue due to external pressure. A longstanding lesion caused by death of tissue due to external pressure. C50706 Decubitus C90259 NICHD Terminology C112116 Eosinophilic Fasciitis Eosinophilic Fasciitis Shulman Syndrome Inflammation and induration of the fascia related to an accumulation of white blood cells, including eosinophils. An inflammatory disease of the fascia caused by infiltration of eosinophils, which manifests as progressive thickening of the tissues, often with accompanying erythema, pain, and induration. A classic finding is eosinophilia in the peripheral blood. C3371 Skin Disorder C90259 NICHD Terminology C112117 Vascular Malformation Vascular Malformation A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels. A non-neoplastic anatomic abnormality involving blood vessels. C3371 Skin Disorder C90259 NICHD Terminology C112119 Umbilical Granuloma Umbilical Granuloma Excessive granulation tissue at the base of the umbilicus after separation. Excessive granulation tissue at the base of the umbilicus after separation. C36281 Integumentary System Finding C90259 NICHD Terminology C112122 Acute Generalized Exanthematous Pustulosis Acute Generalized Exanthematous Pustulosis A widespread acute rash characterized by fever and multiple small pustules on a reddish background. A widespread acute rash characterized by fever and multiple small pustules on a reddish background. C3371 Skin Disorder C90259 NICHD Terminology C112124 Pseudoporphyria Pseudoporphyria A drug-induced photodermatosis characterized by skin fragility, erythema, and the appearance of tense bullae, erosions and scarring in the absence of abnormalities in porphyrin metabolism. A drug-induced photodermatosis characterized by skin fragility, erythema, and the appearance of tense bullae, erosions and scarring in the absence of abnormalities in porphyrin metabolism. C3371 Skin Disorder C90259 NICHD Terminology C112174 Skin Bruise Ecchymosis Bruise Extravasation of blood into the subcutaneous space. Extravasation of blood into the subcutaneous space. C36281 Integumentary System Finding C90259 NICHD Terminology C112175 Angioedema Angioedema Rapid swelling of the deep layers of the skin due to transient vascular leakage of serous fluid. Rapid swelling of the deep layers of the skin due to transient vascular leakage of serous fluid. C36281 Integumentary System Finding C90259 NICHD Terminology C112176 Blanching Blanching Transient pallor of the skin caused by reduced blood flow to the affected region. Transient pallor of the skin caused by reduced blood flow to the affected region. C36281 Integumentary System Finding C90259 NICHD Terminology C112180 Acral Erythema Acral Erythema Reddening of the palmar and plantar regions of the body with occasional involvement of the distal extremities. Reddening of the palmar and plantar regions of the body with occasional involvement of the distal extremities. C36281 Integumentary System Finding C90259 NICHD Terminology C112181 Tinea Infection Tinea Infection A skin infection caused by a fungus. A skin infection caused by a fungus. C3371 Skin Disorder C26726 Infectious Disorder C90259 NICHD Terminology C112182 Toxic Erythema of Chemotherapy Toxic Erythema of Chemotherapy Painful red or purple patches, edematous plaques or blisters on the hands, feet, extremities or intertriginous regions; the onset can occur days to months after receiving chemotherapy. Painful red or purple patches, edematous plaques or blisters on the hands, feet, extremities or intertriginous regions; the onset can occur days to months after receiving chemotherapy. C36281 Integumentary System Finding C90259 NICHD Terminology C112183 Blepharitis Blepharitis Inflammation of the eyelids near the eyelashes. Inflammation of the eyelids near the eyelashes. C3371 Skin Disorder C90259 NICHD Terminology C112189 Bulbar Conjunctivitis Episcleritis Bulbar Conjunctivitis Inflammation of the thin layer of tissue lining the sclera of the eye characterized by redness in the white portion of the eye. Inflammation of the episclera, the thin layer of tissue between the conjunctiva and the sclera. C3371 Skin Disorder C90259 NICHD Terminology C112190 Hidradenitis Hidradenitis Inflammation of the apocrine sweat glands, characterized by redness, itching, pain or swelling of the sweat glands, usually in the axillae or groin. Inflammation of the apocrine sweat glands, characterized by redness, itching, pain or swelling of the sweat glands, usually in the axillae or groin. C3371 Skin Disorder C90259 NICHD Terminology C112197 Enanthem Enanthem An acute eruption of ulcerative lesions on the mucous membrane of the oropharynx. An acute eruption of ulcerative lesions on the mucous membrane of the oropharynx. C3371 Skin Disorder C90259 NICHD Terminology C112198 Angular Cheilitis Angular Cheilitis Cheilosis || Perleche Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts. Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts. C3371 Skin Disorder C90259 NICHD Terminology C112199 Glossitis Glossitis Inflammation of the tongue. Inflammation of the tongue. C3371 Skin Disorder C90259 NICHD Terminology C112200 Telogen Effluvium Telogen Effluvium A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress. A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress. C36281 Integumentary System Finding C90259 NICHD Terminology C112202 Red Man Syndrome Red Man Syndrome An abrupt onset drug reaction characterized by a red rash that involves the face, neck, and upper torso. An abrupt onset drug reaction characterized by a red rash that involves the face, neck, and upper torso. C36281 Integumentary System Finding C90259 NICHD Terminology C112203 Drug Induced Cutaneous Lupus Erythematosus Drug Induced Cutaneous Lupus Erythematosus A reaction to a drug characterized by skin findings common to lupus including photosensitivity and butterfly rash; typically it resolves after drug discontinuation. A reaction to a drug characterized by skin findings common to lupus including photosensitivity and malar rash; typically it resolves after drug discontinuation. C3371 Skin Disorder C90259 NICHD Terminology C112204 Drug Induced Cutaneous Vasculitis Drug Induced Cutaneous Vasculitis Drug Induced Vasculitis A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations. A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations. C3371 Skin Disorder C90259 NICHD Terminology C112208 Drug Hypersensitivity Syndrome Drug Reaction with Eosinophilia and Systemic Symptoms DRESS || Drug Hypersensitivity Syndrome A potentially life-threatening hypersensitivity reaction to a pharmacologic substance that is characterized by rash, lymphadenopathy, fever, hematologic abnormalities and involvement of one or more internal organs. A potentially life-threatening hypersensitivity reaction to a pharmacologic substance that is characterized by rash, lymphadenopathy, fever, hematologic abnormalities and involvement of one or more internal organs. C3371 Skin Disorder C90259 NICHD Terminology C112209 Anticonvulsant Hypersensitivity Syndrome Anti-Convulsant Hypersensitivity Syndrome A form of drug hypersensitivity syndrome caused by anti-convulsants. A form of drug hypersensitivity syndrome caused by anti-convulsants. C3371 Skin Disorder C90259 NICHD Terminology C112210 Cutaneous Vasculitis Cutaneous Vasculitis Inflammation of the blood vessel wall characterized by palpable purpura. Inflammation of the blood vessel wall characterized by palpable purpura. C3371 Skin Disorder C90259 NICHD Terminology C112211 Neutrophilic Eccrine Hidradenitis Neutrophilic Eccrine Hidradenitis Painful red or pink edematous nodules most commonly found on the palmar and/or plantar regions. Painful red or pink edematous nodules most commonly found on the palmar and/or plantar regions. C36281 Integumentary System Finding C90259 NICHD Terminology C112212 Onycholysis Onycholysis A nail condition characterized by spontaneous separation of a fingernail or toenail from its nail bed. A nail disorder characterized by spontaneous separation of a fingernail or toenail from its nail bed. C36281 Integumentary System Finding C90259 NICHD Terminology C112213 Onychodystrophy Onychodystrophy Deformity or discoloration of a fingernail or toenail. Deformity or discoloration of a fingernail or toenail. C36281 Integumentary System Finding C90259 NICHD Terminology C112214 Onychomycosis Onychomycosis Tinea Unguium Fungal infection of a fingernail or toenail. Fungal infection of a fingernail or toenail. C3371 Skin Disorder C26726 Infectious Disorder C90259 NICHD Terminology C112215 Paronychial Inflammation Paronychial Inflammation Swelling and redness of the nail folds. Swelling and redness of the nail folds. C36281 Integumentary System Finding C90259 NICHD Terminology C1126 Haemophilus Influenzae B Vaccine Haemophilus Influenzae B Vaccine Hib Vaccine || PRP vaccine A vaccine against serotype b of the Gram-negative bacterium H. influenzae (Hib). Hib vaccines contain polysaccharide-protein conjugate antigens that produce greater host immune responses than first-generation purified polysaccharide vaccine. These vaccines may differ with regard to use of protein carriers, polysaccharides, diluents, and preservatives. C1455 Conjugate Vaccine C90259 NICHD Terminology C112814 Horizontal Nail Ridging Beau's Lines Horizontal Nail Ridging Linear transverse/horizontal groove of one or more nail plates that migrate distally from the proximal nail fold with nail growth, usually secondary to illness, trauma or malnutrition. Linear transverse/horizontal groove of one or more nail plates that migrate distally from the proximal nail fold with nail growth, usually secondary to illness, trauma or malnutrition. C36281 Integumentary System Finding C90259 NICHD Terminology C112815 Leukonychia Leukonychia Any white discoloration of the nails or nail plates. Any white discoloration of the nails or nail plates. C36281 Integumentary System Finding C90259 NICHD Terminology C112817 Depigmentation Depigmentation Loss of all color from the skin. Loss of all color from the skin. C36281 Integumentary System Finding C90259 NICHD Terminology C112821 Leukoderma Leukoderma Localized loss of skin pigmentation, often in patches. Localized loss of skin pigmentation, often in patches. C36281 Integumentary System Finding C90259 NICHD Terminology C112824 Melasma Melasma Symmetrical patches of tan or brown discoloration on the skin of the face that darken with sun exposure. Symmetrical patches of tan or brown discoloration on the skin of the face that darken with sun exposure. C36281 Integumentary System Finding C90259 NICHD Terminology C112829 Harlequin Reaction Harlequin Reaction Transient blanching of the lower half of the body while in the lateral recumbent position, most commonly seen in premature or low birth weight infants. Transient blanching of the lower half of the body while in the lateral recumbent position, most commonly seen in premature or low birth weight infants. C36281 Integumentary System Finding C90259 NICHD Terminology C112831 Ichthyosis Acquisita Acquired Ichthyosis A non-hereditary form of ichthyosis characterized by plate-like scales on the legs, arms and occasionally the torso. A non-hereditary form of ichthyosis characterized by plate-like scales on the legs, arms and occasionally the torso. C3371 Skin Disorder C90259 NICHD Terminology C112833 Tinea Versicolor Tinea Versicolor A skin condition characterized by hypopigmented, pink or tan, confetti-like, discrete and confluent scaly macules distributed on the chest, shoulders and upper back. A skin condition characterized by hypopigmented, pink or tan, confetti-like, discrete and confluent scaly macules distributed on the chest, shoulders and upper back. C3371 Skin Disorder C90259 NICHD Terminology C112834 Growth Hormone Excess Growth Hormone Excess Overproduction of growth hormone, a protein-based peptide that stimulates growth, cell reproduction, and cell regeneration. Persistently elevated serum concentration of growth hormone. C36285 Endocrine System Finding C90259 NICHD Terminology C112835 Growth Hormone Deficiency Growth Hormone Deficiency GH Deficiency || Somatotropin Deficiency Insufficient production of growth hormone. Insufficient growth hormone secretion. C36285 Endocrine System Finding C90259 NICHD Terminology C112836 Thyroid Storm Thyroid Storm Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone. An acute complication of hyperthyroidism characterized by fever, tachycardia, nausea, agitation and/or coma that may result in death. C3009 Endocrine System Disorder C90259 NICHD Terminology C112840 Adrenal Crisis Adrenal Crisis A life threatening condition due to inadequate levels of glucocorticoids in an individual with adrenal insufficiency. A life threatening condition due to inadequate concentration of glucocorticoids characterized by loss of vascular tone leading to hypotension, tachycardia, and eventual cardiovascular collapse. C3009 Endocrine System Disorder C90259 NICHD Terminology C112841 Chronic Maternal Hypertension Chronic Maternal Hypertension Hypertension that predates pregnancy. Hypertension that predates pregnancy. C3117 Hypertension C90259 NICHD Terminology C112842 Chronic Maternal Hypertension with Superimposed Preeclampsia Chronic Maternal Hypertension with Superimposed Preeclampsia Chronic hypertension in association with preeclampsia. Chronic hypertension in association with preeclampsia. C3117 Hypertension C90259 NICHD Terminology C112843 Severe Preeclampsia Severe Preeclampsia Preeclampsia with Severe Features Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances. Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances. C85021 Preeclampsia C90259 NICHD Terminology C112844 Gestational Diabetes Mellitus, A1 Gestational Diabetes Mellitus, A1 Gestational Diabetes, A1 White Classification Carbohydrate intolerance first diagnosed during pregnancy. Diagnosis from abnormal oral glucose tolerance test (OGTT) but normal glucose levels when fasting and two hours post-prandial. Euglycemia achieved with diet and/or exercise. Carbohydrate intolerance first diagnosed during pregnancy. Diagnosis from abnormal oral glucose tolerance test (OGTT) but normal glucose levels when fasting and two hours post-prandial. Euglycemia achieved with diet and/or exercise. C34942 Gestational Diabetes Mellitus C90259 NICHD Terminology C112845 Gestational Diabetes Mellitus, A2 Gestational Diabetes Mellitus, A2 Gestational Diabetes, A2 White Classification Carbohydrate intolerance first diagnosed during pregnancy. Diagnosis from abnormal oral glucose tolerance test (OGTT) and abnormal fasting or post-prandial glucose levels. Euglycemia achieved with medication. Carbohydrate intolerance first diagnosed during pregnancy. Diagnosis from abnormal oral glucose tolerance test (OGTT) and abnormal fasting or post-prandial glucose levels. Euglycemia achieved with medication. C34942 Gestational Diabetes Mellitus C90259 NICHD Terminology C112846 Chronic Villitis Chronic Villitis VUE || Villitis of Unknown Etiology T-cell immune response with diffuse perivillous fibrin deposition associated with intrauterine growth restriction, pre-term birth and recurrent fetal loss. Placental villi with an increased stromal complement of lymphocytes and other mononuclear cells, often with destruction of local villous vessels and syncytial injury with perivillous fibrin deposition. Chronic villitis can be focal or diffuse. C35169 Pregnancy Disorder C90259 NICHD Terminology C112847 Maternal Weight Gain in Pregnancy Maternal Weight Gain in Pregnancy Maternal Weight Gain During Pregnancy The last recorded maternal weight prior to birth minus the last recorded weight immediately prior to pregnancy. (reVITALize) The last recorded maternal weight prior to birth minus the last recorded weight immediately prior to pregnancy. [verbatim from reVITALize] C62754 Weight Gain C90259 NICHD Terminology C112848 Excessive Weight Gain in Pregnancy Excessive Weight Gain in Pregnancy In a woman with a normal weight pre-pregnancy body mass index (BMI), i.e. 18.5-24.9, the weight gained during pregnancy exceeds a total weight gain of 35 lbs. In a woman with an underweight pre-pregnancy body mass index (BMI), i.e. less than 18.5, the weight gained during pregnancy exceeds a total weight gain of 40 lbs. In a woman with an overweight pre-pregnancy body mass index (BMI), i.e. 25.0-29.9, the weight gained during pregnancy exceeds a total weight gain of 25 lbs. In a woman with an obese pre-pregnancy body mass index (BMI), i.e. greater than 30, the weight gained during pregnancy exceeds a total weight gain of 20 lbs. These standards are supported for the whole population irrespective of height, race or ethnicity. In a woman with a normal weight pre-pregnancy body mass index (BMI), i.e. 18.5-24.9, the weight gained during pregnancy exceeds a total weight gain of 35 lbs. In a woman with an underweight pre-pregnancy body mass index (BMI), i.e. less than 18.5, the weight gained during pregnancy exceeds a total weight gain of 40 lbs. In a woman with an overweight pre-pregnancy body mass index (BMI), i.e. 25.0-29.9, the weight gained during pregnancy exceeds a total weight gain of 25 lbs. In a woman with an obese pre-pregnancy body mass index (BMI), i.e. greater than 30, the weight gained during pregnancy exceeds a total weight gain of 20 lbs. These standards are supported for the whole population irrespective of height, race or ethnicity. C62754 Weight Gain C90259 NICHD Terminology C112849 Low Weight Gain in Pregnancy Low Weight Gain in Pregnancy In a woman with a normal weight pre-pregnancy body mass index (BMI), i.e. 18.5-24.9, the weight gained during pregnancy does not exceed a total weight gain of 25 lbs. In a woman with an underweight pre-pregnancy body mass index (BMI), i.e. less than 18.5, the weight gained during pregnancy does not exceed a total weight gain of 28 lbs. In a woman with an overweight pre-pregnancy body mass index (BMI), i.e. 25.0-29.9, the weight gained during pregnancy does not exceed a total weight gain of 15 lbs. In a woman with an obese pre-pregnancy body mass index (BMI), i.e. greater than 30, the weight gained during pregnancy does not exceed a total weight gain of 11 lbs. These standards are supported for the whole population irrespective of height, race or ethnicity. In a woman with a normal weight pre-pregnancy body mass index (BMI), i.e. 18.5-24.9, the weight gained during pregnancy does not exceed a total weight gain of 25 lbs. In a woman with an underweight pre-pregnancy body mass index (BMI), i.e. less than 18.5, the weight gained during pregnancy does not exceed a total weight gain of 28 lbs. In a woman with an overweight pre-pregnancy body mass index (BMI), i.e. 25.0-29.9, the weight gained during pregnancy does not exceed a total weight gain of 15 lbs. In a woman with an obese pre-pregnancy body mass index (BMI), i.e. greater than 30, the weight gained during pregnancy does not exceed a total weight gain of 11 lbs. These standards are supported for the whole population irrespective of height, race or ethnicity. C62754 Weight Gain C90259 NICHD Terminology C112850 Symphysis Pubis Dysfunction Symphysis Pubis Dysfunction SPD Pelvic pain due to physiological pelvic ligament relaxation and increased joint mobility. Pelvic pain due to physiological pelvic ligament relaxation and increased joint mobility. C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C112851 Post Term Pregnancy Post Term Pregnancy Prolonged Pregnancy A gestation that lasts greater than or equal to 42 weeks and 0 days. A gestation that lasts greater than or equal to 42 weeks and 0 days. C25742 Pregnancy C90259 NICHD Terminology C112852 Twin Pregnancy Twin Pregnancy A pregnancy involving two fetuses. A pregnancy involving two fetuses. C87097 Multiple Gestation C90259 NICHD Terminology C112853 Monochorionic Monoamniotic Twin Pregnancy Monochorionic Monoamniotic Twin Pregnancy A pregnancy involving two fetuses that share both the chorion and amniotic sac. These twins are invariably identical. A pregnancy involving two fetuses that share both the chorion and amniotic sac. These twins are invariably identical. C112852 Twin Pregnancy C90259 NICHD Terminology C112854 Monochorionic Diamniotic Twin Pregnancy Monochorionic Diamniotic Twin Pregnancy A pregnancy involving two fetuses that share the same chorion but have separate amniotic sacs. A pregnancy involving two fetuses that share the same chorion but have separate amniotic sacs. C112852 Twin Pregnancy C90259 NICHD Terminology C112855 Dichorionic Diamniotic Twin Pregnancy Dichorionic Diamniotic Twin Pregnancy A pregnancy involving two fetuses that each have separate chorions and amniotic sacs. A pregnancy involving two fetuses that each have separate chorions and amniotic sacs. C112852 Twin Pregnancy C90259 NICHD Terminology C112856 Non-Cesarean Uterine Surgical Scarring Non-Cesarean Uterine Surgical Scarring Non-Cesarean Uterine Surgery Scar || Non-Cesarean Uterine Surgical Scar A scar/healing of the myometrium that occurs after uterine injury or after non-cesarean surgery. A scar/healing of the myometrium that occurs after uterine injury or after non-cesarean surgery. C36284 Reproductive System Finding C90259 NICHD Terminology C112857 Threatened Abortion Threatened Abortion Vaginal bleeding preceding the 20th week of gestation. Vaginal bleeding preceding the 20th week of gestation. C34941 Pregnancy Complication C90259 NICHD Terminology C112858 Early Pregnancy Loss Early Pregnancy Loss Pregnancy loss before 10th week of gestation with documentation of a confirmed pregnancy. Pregnancy loss before 10th week of gestation. C90491 Pregnancy Outcome C90259 NICHD Terminology C112859 Peri-Implantational Loss Peri-Implantational Loss Chemical Pregnancy || Peri-Implantational Failure Pregnancy loss before 5th week of gestation with no gestational sac visible on ultrasonogram. Pregnancy loss before 5th week of gestation with no gestational sac visible on ultrasonogram. C90491 Pregnancy Outcome C90259 NICHD Terminology C112860 Pre-Embryonic Loss Pre-Embryonic Loss Anembryonic Pregnancy Pregnancy loss with visible gestational sac or yolk sac or both but no visible embryo on ultrasonogram. Pregnancy loss with visible gestational sac or yolk sac or both but no visible embryo on ultrasonogram. C90491 Pregnancy Outcome C90259 NICHD Terminology C112861 Embryonic Loss Embryonic Loss Pregnancy loss at 6 weeks, 0 days to 9 weeks, 6 days of gestation of an embryo with crown-rump length less than 10 mm and no cardiac activity visible on ultrasonogram. Pregnancy loss at 6 weeks, 0 days to 9 weeks, 6 days of gestation of an embryo with crown-rump length less than 10 mm and no cardiac activity visible on ultrasonogram. C90491 Pregnancy Outcome C90259 NICHD Terminology C112862 Early Fetal Death Early Fetal Death Death of a fetus at 10 weeks, 0 days to 15 weeks, 6 days of gestation. Death of a fetus at 10 weeks, 0 days to 15 weeks, 6 days of gestation. C50620 Fetal Death C90259 NICHD Terminology C112863 Late Fetal Death Late Fetal Death Death of a fetus at 16 weeks, 0 days to 19 weeks, 6 days of gestation. Death of a fetus at 16 weeks, 0 days to 19 weeks, 6 days of gestation. C50620 Fetal Death C90259 NICHD Terminology C112864 Spontaneous Preterm Birth Spontaneous Preterm Birth Preterm birth from 20 weeks to 36 weeks, 6 days of gestation associated with one of the following: classic preterm labor or preterm premature rupture of membranes. Preterm birth from 20 weeks to 36 weeks, 6 days of gestation associated with one of the following: classic preterm labor or preterm premature rupture of membranes. C92861 Preterm Birth C90259 NICHD Terminology C112865 Transient Myocardial Ischemia of Newborn Transient Myocardial Ischemia of Newborn A condition characterized by a temporary imbalance between the oxygen supply and demand of the heart muscle in the newborn. A condition characterized by a temporary imbalance between the oxygen supply and demand of the heart muscle in the newborn. C98996 Neonatal Disorder C90259 NICHD Terminology C113099 Pediatric Failure to Thrive Pediatric Failure to Thrive Failure to Thrive Less than normal weight gain in an infant or child, which may include poor linear and head growth. Suboptimal weight gain in an infant or child, which, if severe and/or prolonged, may lead to impaired linear and head growth. C36285 Endocrine System Finding C90259 NICHD Terminology C113100 Growth Failure Growth Failure Linear Growth Failure Less than normal linear growth in an infant or child. Subnormal linear growth rate in an infant, child, or adolescent based on the normative values for the age and sex of the reference population. C36285 Endocrine System Finding C90259 NICHD Terminology C113101 Insulin Resistance Insulin Resistance Decreased sensitivity to circulating insulin which may result in acanthosis nigicrans, elevated insulin level or hyperglycemia. Decreased insulin signaling such that the glycemic response to a given amount of insulin is reduced. C36285 Endocrine System Finding C90259 NICHD Terminology C113102 Hyperglucagonemia Hyperglucagonemia Abnormally high levels of glucagon in the blood, which may manifest as hyperglycemia and/or necrolytic migratory erythema. Abnormally high levels of glucagon in the blood, which may manifest as hyperglycemia and/or necrolytic migratory erythema. C36292 Laboratory Test Result C90259 NICHD Terminology C113104 Hyperinsulinemia Hyperinsulinemia Abnormally high levels of insulin in the blood. Blood insulin concentrations above the reference range for age. C36292 Laboratory Test Result C90259 NICHD Terminology C113143 Primary Hypothyroidism Primary Hypothyroidism Abnormally low levels of thyroid hormones due to a disorder originating within the thyroid gland. Hypothyroidism due to dysfunction of the thyroid gland. C3009 Endocrine System Disorder C90259 NICHD Terminology C113144 Central Hypothyroidism Central Hypothyroidism Hypothalamic-Pituitary Hypothyroidism || TSH Deficiency || Thyroid Stimulating Hormone Deficiency || Thyrotropin Deficiency Abnormally low levels of thyroid hormones due to a disorder originating within the hypothalamic-pituitary axis. Subnormal concentrations of thyroid hormone(s) caused by hypothalamic-pituitary dysfunction. C3009 Endocrine System Disorder C90259 NICHD Terminology Secondary Hypothyroidism C113145 Primary Hyperthyroidism Primary Hyperthyroidism Overproduction of thyroid hormone due to a disorder originating within the thyroid gland. Overproduction of thyroid hormone due to a disorder originating within the thyroid gland. C3009 Endocrine System Disorder C90259 NICHD Terminology C113146 Central Hyperthyroidism Central Hyperthyroidism Overproduction of thyroid hormones due to a disorder originating within the hypothalamic-pituitary axis. Hyperthyroidism due to a condition originating within the hypothalamic-pituitary axis. C3009 Endocrine System Disorder C90259 NICHD Terminology C113147 Hashitoxicosis Hashitoxicosis Hashimoto Toxicosis Severe, transient hyperthyroidism associated with Hashimoto thyroiditis. Transient hyperthyroidism associated with Hashimoto thyroiditis. C3009 Endocrine System Disorder C90259 NICHD Terminology C113148 Fetal Blood Loss Fetal Blood Loss Loss of blood from the fetal circulation. Loss of blood from the fetal circulation. C92719 Fetal Disorder C90259 NICHD Terminology C113149 Fetal-Maternal Hemorrhage Fetal-Maternal Hemorrhage Fetal-Maternal Bleed || Fetomaternal Hemorrhage Loss of fetal blood into the maternal circulation. Loss of fetal blood into the maternal circulation. C26791 Hemorrhage C90259 NICHD Terminology C113150 Rhesus Isoimmunization Rhesus Isoimmunization Rh Isoimmunization The mother develops antibodies against red blood cell Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia. The mother develops antibodies against red blood cell Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia. C92711 Fetal Finding C90259 NICHD Terminology C113151 Fetal Acidosis Fetal Acidemia Fetal Acidosis An abnormally high hydrogen ion concentration (umbilical arterial blood pH less than 7.00) in fetal blood or tissue. An umbilical arterial blood pH less than 7.00. C92711 Fetal Finding C90259 NICHD Terminology C113152 Short Umbilical Cord Short Umbilical Cord An umbilical cord at term that is less than 35 cm in length. An umbilical cord at term that is less than 35 cm in length. C92711 Fetal Finding C90259 NICHD Terminology C113153 Nuchal Cord Nuchal Cord An umbilical cord that has become looped around the fetus's neck from movement in utero. An umbilical cord that has become looped around the fetus's neck from movement in utero. C81236 Birth Complication C90259 NICHD Terminology C113154 Umbilical Cord Occlusion Umbilical Cord Occlusion Blockage of blood flow in the umbilical vessels. Blockage of blood flow in the umbilical vessels. C81236 Birth Complication C90259 NICHD Terminology C113155 Meconium Stained Amniotic Fluid Meconium Stained Amniotic Fluid Meconium in Amniotic Fluid Presence of meconium into amniotic fluid. Presence of meconium into amniotic fluid. C81236 Birth Complication C90259 NICHD Terminology C113156 Transient Myocardial Dysfunction of Newborn Transient Myocardial Dysfunction of Newborn A condition in a newborn characterized by a temporary decrease in right ventricular and/or left ventricular output. A condition characterized by a temporary decrease in right ventricular and/or left ventricular output. C98996 Neonatal Disorder C90259 NICHD Terminology C113159 Pneumonitis Pneumonitis An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia. Inflammation of the lung parenchyma. C26871 Respiratory System Disorder C90259 NICHD Terminology C113168 Hyperprolactinemia Hyperprolactinemia Abnormally high level of prolactin in the blood. Supranormal concentration of prolactin. C36292 Laboratory Test Result C90259 NICHD Terminology C113169 Insulin Resistance Syndrome Insulin Resistance Syndrome A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome. A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome. C3009 Endocrine System Disorder C90259 NICHD Terminology C113170 Sick Euthyroid Syndrome Sick Euthyroid Syndrome Euthyroid Sick Syndrome Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness. A pattern of thyroid function tests associated with a non-thyroidal illness in which triiodothyronine is low while reverse triiodothyronine is elevated. C3009 Endocrine System Disorder C90259 NICHD Terminology C113171 Transient Hypothyroxinemia of Prematurity Transient Hypothyroxinemia of Prematurity Hypothyroxinemia of Prematurity || THOP || Transient Congenital Hypothyroidism A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone. A congenital condition in which the function of the thyroid gland is transiently impaired, resulting in a subnormal concentration(s) of thyroid hormone(s) in the neonatal period. C3009 Endocrine System Disorder C90259 NICHD Terminology C113172 Primary Adrenal Insufficiency Primary Adrenal Insufficiency A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary. Adrenal insufficiency due to a condition originating within the adrenal glands. C3009 Endocrine System Disorder C90259 NICHD Terminology C113203 Adrenal Androgen Deficiency Adrenal Androgen Deficiency Adrenal Hypoandrogenism Abnormally low or absent secretion of the androgen precursor hormones dehydroepiandrosterone (DHEA), DHEA sulfate, and androstenedione, from the adrenal gland. Reduced concentrations of the adrenal androgens dehydroepiandrosterone (DHEA), DHEA sulfate, and androstenedione. C36285 Endocrine System Finding C90259 NICHD Terminology C113206 Hypoaldosteronemia Aldosterone Deficiency Hypoaldosteronemia || Hypoaldosteronism || Mineralocorticoid Deficiency Abnormally low levels of aldosterone in the blood. Reduced or absent secretion of mineralocorticoids, primarily aldosterone. C36292 Laboratory Test Result C90259 NICHD Terminology C113208 Hypercortisolemia Hypercortisolemia Abnormally high level of cortisol in the blood. Abnormally high levels of cortisol in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C113209 Adrenal Androgen Excess Adrenal Androgen Excess Adrenal Hyperandrogenism Excessive secretion of the androgen hormones dehydroepiandrosterone (DHEA), DHEA sulfate, and androstenedione, from the adrenal gland. Clinical manifestations may include virilization. Excessive secretion of the androgen hormones dehydroepiandrosterone (DHEA), DHEA sulfate, and androstenedione, from the adrenal gland. Clinical manifestations may include virilization. C36285 Endocrine System Finding C90259 NICHD Terminology C113210 Cushing Disease Cushing Disease ACTH Producing Pituitary Adenoma || Cushing's Disease Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland. Cushing syndrome due to an adrenocorticotropic hormone-producing adenoma in the pituitary gland. C3009 Endocrine System Disorder C90259 NICHD Terminology C113211 Hypocortisolemia Hypocortisolemia Hypocortisolism Abnormally low level of cortisol in the blood. Abnormally low level of cortisol in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C113212 Hyperaldosteronemia Hyperaldosteronemia Abnormally high levels of aldosterone in the blood. Abnormally high levels of aldosterone in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C113213 Hyperaldosteronism Hyperaldosteronism Aldosteronism Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia. The condition that results from prolonged exposure to a supranormal concentration of aldosterone, characterized by hypertension, and may include hypokalemia. C36292 Laboratory Test Result C3009 Endocrine System Disorder C90259 NICHD Terminology C113214 Primary Hypoparathyroidism Primary Hypoparathyroidism Abnormally low levels of parathyroid hormone due to a disorder originating within the parathyroid glands. Hypoparathyroidism due to a condition originating within the parathyroid glands. C3009 Endocrine System Disorder C90259 NICHD Terminology C113215 Androgen Excess Hyperandrogenism Androgen Excess Excessive secretion of androgens from the adrenal glands or gonads. Clinical manifestations may include virilization. Excessive secretion of androgens by the adrenal glands and/or gonads. C36285 Endocrine System Finding C90259 NICHD Terminology C113217 Gonadotropin-Dependent Precocious Puberty Gonadotropin-Dependent Precocious Puberty Central Precocious Puberty || Gonadotropin-releasing Hormone-dependent Precocious Puberty || True Precocious Puberty Premature onset of sexual development triggered by the premature secretion of gonadotropins. Precocious puberty due to premature activation of the hypothalamic-pituitary-gonadal axis. C36285 Endocrine System Finding C90259 NICHD Terminology C113219 Gonadotropin-Independent Precocious Puberty Gonadotropin-Independent Precocious Puberty Peripheral Precocious Puberty Premature development of secondary sexual characteristics due to the presence of sex steroids independent of pituitary gonadotropin release. Precocious puberty due to increased secretion of gonadal sex steroids independent of pituitary gonadotropin release. C36285 Endocrine System Finding C90259 NICHD Terminology C113303 Adipose Tissue Deposition Adipose Tissue Deposition The deposition of lipids in tissue. The deposition of lipids in tissue. C100104 Sign or Symptom C90259 NICHD Terminology C113335 Secondary Hyperparathyroidism Secondary Hyperparathyroidism Overproduction of parathyroid hormone in response to influence external to the parathyroid glands. Overproduction of parathyroid hormone in response to a condition originating extrinsic to the parathyroid glands. C3009 Endocrine System Disorder C90259 NICHD Terminology C113336 Pubertal Failure Pubertal Failure Abnormally absent or incomplete sexual development. Onset of pubertal development followed by failure to complete sexual maturation. C36285 Endocrine System Finding C90259 NICHD Terminology C113337 Premature Adrenarche Premature Adrenarche Premature onset of adrenal androgen-mediated secondary sexual characteristics. Premature onset of adrenal androgen secretion resulting in early development of androgen mediated secondary sexual characteristics. C36285 Endocrine System Finding C90259 NICHD Terminology C113338 Premature Menarche Premature Menarche Occurrence of the first menstrual period in a female before the usual or expected age. Occurrence of the first menstrual period in a female before the usual or expected age. C36285 Endocrine System Finding C90259 NICHD Terminology C113339 Primary Amenorrhea Primary Amenorrhea Delayed Menarche Abnormally late or absent menarche in a female with normal secondary sexual characteristics. Abnormally late or absent menarche in a female with normal secondary sexual characteristics. C3009 Endocrine System Disorder C90259 NICHD Terminology C113340 Secondary Amenorrhea Secondary Amenorrhea The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal. Amenorrhea in the setting of the following factors: occurring after the onset of menarche; persisting for six months or more; occurring in the absence of pregnancy, breastfeeding, or menopause. C3009 Endocrine System Disorder C90259 NICHD Terminology C113341 Oligomenorrhea Oligomenorrhea Infrequent menstrual periods. Infrequent menstrual periods. C3009 Endocrine System Disorder C90259 NICHD Terminology C113342 Premature Thelarche Premature Thelarche Isolated breast development prior to the normal age of pubertal onset in females. Onset of breast development before the lower limit of the normal age of onset of breast development in girls without other signs of puberty. C36285 Endocrine System Finding C90259 NICHD Terminology C113343 Galactorrhea Galactorrhea Nipple Discharge Excessive secretion of breast milk. Milky discharge from the nipple unrelated to lactation. C36285 Endocrine System Finding C90259 NICHD Terminology C113344 Hyperestrogenism Hyperestrogenism Estrogen Excess Abnormally high level of estrogen. Abnormally high level of estrogen. C36292 Laboratory Test Result C90259 NICHD Terminology C113345 Hyperprogesteronism Hyperprogesteronism Progesterone Excess Abnormally high level of progesterone. Abnormally high level of progesterone. C36292 Laboratory Test Result C90259 NICHD Terminology C113346 Hypoprogesteronism Hypoprogesteronism Progesterone Deficiency Abnormally low level of progesterone. Abnormally low level of progesterone. C36292 Laboratory Test Result C90259 NICHD Terminology C113347 Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism Central Hypogonadism Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis. Hypogonadism due to an intrinsic deficiency of gonadotropin secretion. C3009 Endocrine System Disorder C90259 NICHD Terminology Secondary Hypogonadism C113348 Hypergonadotropic Hypogonadism Hypergonadotropic Hypogonadism Primary Gonadal Failure Ovarian or testicular dysfunction associated with high levels of gonadotropins. Ovarian or testicular dysfunction that results in high concentrations of gonadotropins. C3009 Endocrine System Disorder C90259 NICHD Terminology C113349 Testosterone Excess Testosterone Excess Abnormally high level of testosterone. Abnormally high level of testosterone. C36285 Endocrine System Finding C90259 NICHD Terminology C113351 Ovarian Failure Ovarian Failure The inability of the ovaries to function. Failure of ovarian hormone production and oogenesis. C36285 Endocrine System Finding C90259 NICHD Terminology C113352 Primary Ovarian Failure Primary Ovarian Failure Hypergonadotropic Hypogonadism (Female) Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries. Absent or premature cessation of ovarian function due to an issue originating within the ovaries. C3009 Endocrine System Disorder C90259 NICHD Terminology C113381 Antepartum Stillbirth Antepartum Stillbirth Fetal death greater than or equal to 20 weeks of gestation prior to labor with Apgar scores of 0 at 1 minute, 5 minutes and beyond. Fetal death greater than or equal to 20 weeks of gestation prior to labor with Apgar scores of 0 at 1 minute, 5 minutes and beyond. C34941 Pregnancy Complication C90259 NICHD Terminology C113382 Intrapartum Stillbirth Intrapartum Stillbirth Fetal death greater than or equal to 20 weeks of gestation during labor with Apgar scores of 0 at 1 minute, 5 minutes and beyond. Fetal death greater than or equal to 20 weeks of gestation during labor with Apgar scores of 0 at 1 minute, 5 minutes and beyond. C90491 Pregnancy Outcome C90259 NICHD Terminology C113383 Indicated Preterm Birth Indicated Preterm Birth Preterm birth from 20 weeks to 36 weeks, and 6 days of gestation that is necessitated by the medical condition of the mother or fetus. Preterm birth from 20 weeks to 36 weeks and 6 days of gestation that is necessitated by the medical condition of the mother or fetus. C92720 Pregnancy Finding C90259 NICHD Terminology C113385 Placenta Increta Placenta Increta Histologically-confirmed deep attachment of the placenta into the myometrium that does not cross the serosa. Histologically-confirmed deep attachment of the placenta into the myometrium that does not cross the serosa. C26857 Placental Disorder C90259 NICHD Terminology C113386 Placenta Percreta Placenta Percreta Histologically-confirmed deep attachment of the placenta into the myometrium and serosa. It may further extend into an adjacent organ such as the bladder. Histologically-confirmed deep attachment of the placenta into the myometrium and serosa. It may further extend into an adjacent organ such as the bladder. C26857 Placental Disorder C90259 NICHD Terminology C113387 Low-Lying Placenta Low-Lying Placenta A condition in which the placental edge is within 2 cm of but not covering the cervical os. A condition in which the placental edge is within 2 cm of but not covering the cervical os. C26857 Placental Disorder C90259 NICHD Terminology C113389 Duration of Rupture of Membrane Duration of Rupture of Membranes Latency Interval Duration from rupture of membranes to birth (in hours and minutes). (reVITALize) Duration from rupture of membranes to birth (in hours and minutes). [verbatim from reVITALize] C25207 Time C90259 NICHD Terminology C113390 Number of Centimeters Dilated on Admission Number of Centimeters Dilated on Admission The last documented cervical dilation, in centimeters, when the provider orders admission. (reVITALize) The last documented cervical dilation, in centimeters, when the provider orders admission. [verbatim from reVITALize] C92720 Pregnancy Finding C90259 NICHD Terminology C113391 Blood in Stool Blood in Stool A finding indicating the presence of blood in stool. It is the result of gastrointestinal hemorrhage and it may be easily seen in stool or may be identified microscopically. The presence of blood in fecal matter; usually as a result of gastrointestinal tract hemorrhage. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C113395 Feeding Intolerance Feeding Intolerance Inability to achieve a full feeding volume. Inability to achieve a full feeding volume. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C113396 Infantile Gastroesophageal Reflux Gastroesophageal Reflux Infant Reflux || Infant Regurgitation || Spilling || Spitting Up Effortless regurgitation of gastric contents that commonly occurs in infants, usually right after feeding or burping. Effortless regurgitation of food, milk, and saliva that commonly occurs in infants, usually right after feeding or burping. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C113397 Sandifer's Syndrome Sandifer's Syndrome Sandifer Syndrome A condition associated with gastro-esophageal reflux disease that presents in infancy and early childhood and is characterized by spastic torticollis and dystonic body movements. A condition associated with gastro-esophageal reflux disease that presents in infancy and early childhood and is characterized by spastic torticollis and dystonic body movements. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C113398 Melena Neonatorum Melena Neonatorum Melena Neonatal || Neonatal Melena Abnormally dark tarry feces containing blood, usually due to gastrointestinal bleeding or swallowed maternal blood in neonates. Abnormally dark tarry feces containing blood, usually due to gastrointestinal bleeding or swallowed maternal blood in neonates. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C113400 Hepatorenal Syndrome Hepatorenal Syndrome A syndrome characterized by progressive kidney failure in a patient with cirrhosis or fulminant liver failure. A syndrome characterized by progressive kidney failure in an individual with cirrhosis or fulminant liver failure. C28193 Syndrome C90259 NICHD Terminology C113421 Gray Baby Syndrome Gray Baby Syndrome Gray Syndrome || Grey Syndrome A disorder observed in a newborn who was exposed to chloramphenicol. Manifestations include hypotension, cyanosis, cardiovascular collapse and/or death. A disorder observed in a newborn who was exposed to chloramphenicol. Manifestations include hypotension, cyanosis, cardiovascular collapse and/or death. C98996 Neonatal Disorder C90259 NICHD Terminology C113422 Diethylstilbestrol Syndrome Diethylstilbestrol Syndrome Fetal Diethylstilbestrol Syndrome A disorder likely to occur in children and grandchildren of a woman treated with diethylstilbestrol during pregnancy. Manifestations include vaginal adenosis, cervical malformations, vaginal septae, genital tract anomalies or Fallopian tube anomalies causing subsequent fertility problems. A disorder likely to occur in children and grandchildren of a woman treated with diethylstilbestrol during pregnancy. Manifestations include vaginal adenosis, cervical malformations, vaginal septae, genital tract anomalies or Fallopian tube anomalies causing subsequent fertility problems. C98996 Neonatal Disorder C90259 NICHD Terminology C113423 Labor After Cesarean Labor After Cesarean LAC Labor in a woman who has had one or more previous cesarean births. Labor in a woman who has had one or more previous cesarean births. C92743 Labor C90259 NICHD Terminology C113424 Threatened Preterm Labor Threatened Preterm Labor Threatened Premature Labor Frequent painful contractions prior to 37 weeks of gestation without cervical change. Frequent painful contractions prior to 37 weeks of gestation without cervical change. C118419 Labor Complication C90259 NICHD Terminology C113469 Esophageal Dysphagia Esophageal Dysphagia Difficulty in swallowing due to an abnormality in the esophagus. Difficulty in swallowing due to an abnormality in the esophagus. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C113480 Projectile Vomiting Projectile Vomiting Forceful expulsion of the contents of the stomach through the mouth. Expulsion of the contents of the stomach through the mouth with great force. C3442 Vomiting C90259 NICHD Terminology C113481 Infantile Colic Colic Infant Colic || Infantile Colic Paroxysms of irritability, fussing or crying that starts and stops without obvious cause in an infant up to four months of age without failure to thrive. Episodes last three or more hours per day for at least three days per week for at least on week. Consistent pattern of crying in a healthy infant between 3 weeks and 3 months of age. Often defined as lasting 3 hours a day more than 3 days a week for at least 3 weeks in a row. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C113482 Abdominal Migraine Abdominal Migraine Paroxysmal episodes of intense, acute periumbilical pain that lasts for one or more hours with intervening periods of usual health lasting weeks to months, with no evidence of an inflammatory, anatomic, metabolic, or neoplastic process that explains the symptoms. The pain interferes with normal activities and is associated with at least two of the following symptoms: anorexia, nausea, vomiting, headache, photophobia, and/or pallor. Paroxysmal episodes of intense, acute periumbilical pain that lasts for one or more hours with intervening periods of usual health lasting weeks to months, with no evidence of an inflammatory, anatomic, metabolic, or neoplastic process that explains the symptoms. The pain interferes with normal activities and is associated with at least two of the following symptoms: anorexia, nausea, vomiting, headache, photophobia, and/or pallor. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C113483 Malabsorption Malabsorption Inadequate absorption of nutrients in the small intestine. Inadequate absorption of nutrients in the small intestine. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C113484 Intussusception Intussusception Telescoping or invagination of a part of the intestine into an adjacent segment. Telescoping or invagination of a part of the intestine into an adjacent segment. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C113485 Diabetic Embryopathy Diabetic Embryopathy A condition in which the offspring of a mother with diabetes predating pregnancy develops congenital malformations that can affect multiple organ systems including the brain and spinal cord, the heart and major vessels, the kidneys, the gut, and skeletal structures. A condition in which the offspring of a mother with diabetes predating pregnancy develops congenital malformations that can affect multiple organ systems including the brain and spinal cord, the heart and major vessels, the kidneys, the gut, and skeletal structures. C92719 Fetal Disorder C90259 NICHD Terminology C113486 Fetal Macrosomia Fetal Macrosomia A fetus exceeding 4500 grams. A fetus whose estimated weight exceeds 4500 grams. C92711 Fetal Finding C90259 NICHD Terminology C113487 Non-Rh Blood Group Isoimmunization Non-Rh Blood Group Isoimmunization The mother develops antibodies against red blood cell non-Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia. The mother develops antibodies against red blood cell non-Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia. C34941 Pregnancy Complication C90259 NICHD Terminology C113488 Braxton-Hicks Contraction Braxton-Hicks Contraction Braxton-Hicks Contractions Irregular infrequent uterine contractions typically characteristic of the third trimester of pregnancy that do not result in cervical change or labor. Irregular infrequent uterine contractions typically characteristic of the third trimester of pregnancy that do not result in cervical change or labor. C92720 Pregnancy Finding C90259 NICHD Terminology C113489 Time of Onset of Labor Time of Onset of Labor Time of the Onset of Labor The time when regular uterine contractions began that resulted in labor with or without the use of pharmacological and/or mechanical interventions. (reVITALize) The time when regular uterine contractions began that resulted in labor with or without the use of pharmacological and/or mechanical interventions. [verbatim from reVITALize] C25207 Time C90259 NICHD Terminology C113490 Spontaneous Onset of Labor Spontaneous Onset of Labor Labor without the use of pharmacological and/or mechanical interventions to initiate labor. Does not apply if artificial rupture of membranes is performed before the onset of labor. (reVITALize) Labor without the use of pharmacological and/or mechanical interventions to initiate labor. Does not apply if artificial rupture of membranes is performed before the onset of labor. [verbatim from reVITALize] C92743 Labor C90259 NICHD Terminology C113491 Precipitous Birth Precipitous Birth Unexpectedly sudden vaginal delivery. Unexpectedly sudden vaginal delivery. C81303 Vaginal Delivery C90259 NICHD Terminology C113492 Dysfunctional Labor Dysfunctional Labor Arrest of Dilatation || Failure to Progress || Labor Dystocia Uterine contractions (less than 3 in 10 minutes or inadequate strength) that do not result in progressive cervical dilation. Uterine contractions (less than 3 in 10 minutes or inadequate strength) that do not result in progressive cervical dilation. C118419 Labor Complication C90259 NICHD Terminology C113493 Tetanic Contraction Tetanic Contraction A single uterine contraction lasting greater than 2 minutes. A single uterine contraction lasting greater than 2 minutes. C92720 Pregnancy Finding C90259 NICHD Terminology C113494 Funic Presentation Funic Presentation Cord Presentation || Funis Presentation The positioning of the umbilical cord before the main presenting part of the fetus. The positioning of the umbilical cord before the main presenting part of the fetus. C92793 Fetal Malpresentation C90259 NICHD Terminology C113495 Brow Presentation Brow Presentation A fetal presentation during delivery in which the brow of the fetus is first to descend into the birth canal. A fetal presentation during delivery in which the brow of the fetus is first to descend into the birth canal. C92793 Fetal Malpresentation C90259 NICHD Terminology C113496 Neonatal Hyperglycemia Neonatal Hyperglycemia Blood glucose concentration above the upper limit of established reference ranges in a newborn. Blood glucose concentration above the upper limit of established reference ranges in a newborn. C26797 Hyperglycemia C90259 NICHD Terminology C113588 Oropharyngeal Dysphagia Oropharyngeal Dysphagia Difficulty in swallowing due to an abnormality in the mouth or throat. Difficulty in swallowing due to an abnormality in the mouth or throat. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C113609 Chronic Liver Disease Chronic Liver Disease Hepatic necrosis, inflammation, or scarring due to any cause that persists for more than 6 months. Manifestations may include signs and symptoms of cholestasis, portal hypertension, and/or abnormal liver function tests. Hepatic necrosis, inflammation, or scarring due to any cause that persists for more than 6 months. Manifestations may include signs and symptoms of cholestasis, portal hypertension, and/or abnormal liver function tests. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C113615 Proctalgia Fugax Proctalgia Fugax Recurrent episodes of pain localized to the anus or lower rectum which lasts seconds to minutes. There is no pain between episodes. Recurrent episodes of pain localized to the anus or lower rectum which lasts seconds to minutes. There is no pain between episodes. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C113669 Disseminated Bacillus Calmette-Guerin Infection Disseminated Bacillus Calmette-Guérin Infection BCGosis || Disseminated BCGitis || Disseminated Bacillus Calmette-Guerin Infection A rare systemic and life-threatening infection associated with vaccination with the live attenuated strain of Mycobacterium bovis, bacillus Calmette-Guerin. A systemic and life-threatening infection associated with vaccination with the live attenuated strain of Mycobacterium bovis, Bacillus Calmette-Guerin. C2890 Bacterial Infection C90259 NICHD Terminology C113670 Hypotonic-Hyporesponsive Episode Hypotonic-Hyporesponsive Episode Acute onset of unresponsiveness or diminished level of consciousness, associated with loss of muscle tone and pallor or cyanosis, that occurs within 48 hours after childhood immunizations. It is primarily associated with pertussis-containing vaccines administered to children under two years of age. Acute onset of unresponsiveness or diminished level of consciousness, associated with loss of muscle tone and pallor or cyanosis that occurs within 48 hours after childhood immunizations. It is primarily associated with pertussis-containing vaccines administered to children under two years of age. C87124 Central Nervous System Signs and Symptoms C90259 NICHD Terminology C113671 Vaccine-Associated Paralytic Poliomyelitis Vaccine-Associated Paralytic Poliomyelitis OPV associated Paralytic Poliomyelitis || VAPP A rare, paralytic poliomyelitis associated with the orally administered live attenuated strain of the poliovirus, OPV. A paralytic poliomyelitis syndrome associated with the orally administered live attenuated strain of the poliovirus, OPV. C2959 Complication C90259 NICHD Terminology C113672 Disseminated Oka Varicella Zoster Virus Infection Disseminated Varicella Zoster Vaccine Virus Infection A rare systemic and life-threatening infection associated with vaccination with the live attenuated strain of the Varicella-zoster virus, Oka. A systemic and life-threatening infection associated with vaccination with the live attenuated strain of the Varicella zoster virus. C96407 Varicella Zoster Infection C90259 NICHD Terminology C113673 Reactive Airway Disease Reactive Airway Disease (AQ) Coughing, wheezing, or shortness of breath that is triggered by allergens, infection, or other irritants. A term describing any condition in which the airways are hyperreactive to stimulation. C26871 Respiratory System Disorder C90259 NICHD Terminology C113710 Reticulocytopenia Reticulocytopenia Abnormally low level of immature red blood cells in the blood. Abnormally low level of immature red blood cells in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C113711 Erythrocytosis Erythrocytosis Abnormally high level of red blood cells in the blood. Abnormally high level of red blood cells in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C113712 Eosinophilopenia Eosinophilopenia Abnormally low level of eosinophils in the blood. Abnormally low level of eosinophils in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C113713 Basophilopenia Basophilopenia Abnormally low level of basophils in the blood. Abnormally low level of basophils in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C113714 Monocytopenia Monocytopenia Abnormally low level of monocytes in the blood. Abnormally low level of monocytes in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C113740 Hyperfibrinogenemia Hyperfibrinogenemia Fibrinogenemia Abnormally high level of fibrinogen in the blood. Abnormally high level of fibrinogen in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C113742 Excessive Bleeding Excessive Bleeding Abnormally heavy or prolonged loss of blood. Abnormally heavy or prolonged loss of blood. C100104 Sign or Symptom C90259 NICHD Terminology C113743 Excessive Bruising Excessive Bruising Bruising that is disproportionately high to the amount of trauma received or reported. Bruising that is disproportionally high for the associated trauma. C100104 Sign or Symptom C90259 NICHD Terminology C113749 Acute Hemorrhagic Edema of Infancy Acute Hemorrhagic Edema of Infancy A self-limiting cutaneous vasculitis that typically presents as a clinical triad of purpura, edema, and fever in children between the ages of four months and two years old. It is usually associated with a recent history of upper respiratory infection and/or antibiotic therapy. A self-limiting cutaneous vasculitis that typically presents as a clinical triad of purpura, edema, and fever in children between the ages of four months and two years old. It is usually associated with a recent history of upper respiratory infection and/or antibiotic therapy. C26323 Hematologic Disorder C90259 NICHD Terminology C113750 Hyperphosphatemia Hyperphosphatemia Abnormally high level of phosphate in the blood. Abnormally high level of phosphate in the blood. C27120 Electrolyte Disorder C90259 NICHD Terminology C113751 Transaminitis Transaminitis Elevated Transaminases || Hypertransaminasemia Abnormally high levels of alanine transaminase (ALT) and/or aspartate transaminase (AST) in the blood. Abnormally high levels of alanine transaminase (ALT) and/or aspartate transaminase (AST) in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C113755 Hyperamylasemia Hyperamylasemia Elevated Amylase Abnormally high level of amylase in the blood. Abnormally high level of amylase in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C113756 Pleocytosis Pleocytosis Abnormally high cell count in a body fluid. Abnormally high cell count in a body fluid. C36292 Laboratory Test Result C90259 NICHD Terminology C113768 Direct Hyperbilirubinemia Conjugated Hyperbilirubinemia Direct Hyperbilirubinemia Abnormally high level of conjugated bilirubin in the blood. Abnormally high level of conjugated bilirubin in the blood. C27088 Hyperbilirubinemia C90259 NICHD Terminology C113785 Indirect Hyperbilirubinemia Unconjugated Hyperbilirubinemia Indirect Hyperbilirubinemia Abnormally high level of unconjugated bilirubin in the blood. Abnormally high level of unconjugated bilirubin in the blood. C27088 Hyperbilirubinemia C90259 NICHD Terminology C113814 Autoimmune Primary Adrenal Insufficiency Autoimmune Adrenalitis Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands. Addison disease due to autoimmune destruction of the adrenal glands. C3009 Endocrine System Disorder C90259 NICHD Terminology C113824 Twin-Twin Transfusion Syndrome Twin-Twin Transfusion Syndrome Placental Transfusion Syndrome || Stuck Twin Syndrome || TTTS A condition which occurs in monozygotic twins in which one of the fetuses supplies the majority of the cardiac output to its co-twin through its umbilical artery. The recipient twin has only rudimentary organs and structure and is not viable. A disorder that results from monozygotic twins unequally sharing blood flow through their common placenta. It is characterized by placental vascular communications, and one twin that is Designated as the donor and the other as the recipient. There is polyhydramnios in the recipient twin and oligohydramnios in the donor twin. C92719 Fetal Disorder C90259 NICHD Terminology C113825 Vanishing Twin Syndrome Vanishing Twin Syndrome Vanishing Twin A multiple pregnancy that over time is spontaneously reduced by one or more embryos which are then resorbed. A multiple pregnancy that over time is spontaneously reduced by one or more embryos which are then resorbed. C34941 Pregnancy Complication C90259 NICHD Terminology C113829 Discordant Twin Discordant Twin Discordant Growth A twin whose estimated fetal weight is determined to have 20% or greater difference from its sibling. A twin whose estimated fetal weight is determined to have 20% or greater difference from its sibling. C34941 Pregnancy Complication C90259 NICHD Terminology C113833 Fetal Hypoxemia Fetal Hypoxemia Abnormally low arterial blood oxygen concentration in a fetus. Abnormally low arterial blood oxygen concentration in a fetus. C92711 Fetal Finding C90259 NICHD Terminology C114079 Fetal Echocardiography Fetal Echocardiography An antenatal ultrasonographic procedure used to evaluate the structure and function of the fetal heart. An antenatal ultrasonographic procedure used to evaluate the structure and function of the fetal heart. C90341 Pediatric Intervention or Procedure C90259 NICHD Terminology C114080 Fetal Doppler Velocimetry Fetal Doppler Velocimetry An antenatal ultrasonographic method that measures blood flow velocity through either maternal or fetal vessels. An antenatal ultrasonographic method that measures blood flow velocity through either maternal or fetal vessels. C90341 Pediatric Intervention or Procedure C90259 NICHD Terminology C114081 Fetal Doppler Monitoring External Fetal Heart Rate Monitoring EFM || Fetal Doppler Monitoring A technique that utilizes a Doppler transducer to monitor fetal heart rate. The transducer is placed on the maternal abdomen and detects fetal cardiac motion using ultrasound. A technique that utilizes a Doppler transducer to monitor fetal heart rate. The transducer is placed on the maternal abdomen and detects fetal cardiac motion using ultrasound. C92929 Fetal Heart Rate Monitoring C90259 NICHD Terminology C114083 Internal Fetal Heart Rate Monitoring Internal Fetal Heart Rate Monitoring FSE || Fetal Scalp Electrode Monitoring A technique that utilizes a wire attached to the fetal scalp to monitor fetal heart rate. The wire detects fetal cardiac electrical activity to determine the baseline fetal heart rate and variability. A technique that utilizes a wire attached to the fetal scalp to monitor fetal heart rate. The wire detects fetal cardiac electrical activity to determine the baseline fetal heart rate and variability. C92929 Fetal Heart Rate Monitoring C90259 NICHD Terminology C114084 Intrapartum Fetal Stimulation Intrapartum Fetal Stimulation Any method used to elicit a fetal heart rate acceleration response during labor. Any method used to elicit a fetal heart rate acceleration response during labor. C49236 Therapeutic Procedure C90259 NICHD Terminology C114085 Vibroacoustic Stimulation Vibroacoustic Stimulation VAS A fetal stimulation technique that uses vibratory sound applied to the maternal abdomen to elicit a fetal heart rate acceleration response before or during labor. A fetal stimulation technique that uses vibratory sound applied to the maternal abdomen to elicit a fetal heart rate acceleration response before or during labor. C49236 Therapeutic Procedure C90259 NICHD Terminology C114086 Allis Clamp Fetal Scalp Stimulation Allis Clamp Fetal Scalp Stimulation A fetal stimulation technique that uses an Allis clamp applied transvaginally to the fetal head to elicit a fetal heart rate acceleration response during labor. A fetal stimulation technique that uses an Allis clamp applied transvaginally to the fetal head to elicit a fetal heart rate acceleration response during labor. C49236 Therapeutic Procedure C90259 NICHD Terminology C114087 Digital Fetal Scalp Stimulation Digital Fetal Scalp Stimulation Scalp Stim A fetal stimulation technique that uses transvaginal digital pressure or rubbing to the fetal head to elicit a fetal heart rate acceleration response during labor. A fetal stimulation technique that uses transvaginal digital pressure or rubbing to the fetal head to elicit a fetal heart rate acceleration response during labor. C49236 Therapeutic Procedure C90259 NICHD Terminology C114088 Conception Age Conception Age Conceptional Age || Conceptual Age || Post-Conceptional Age || Post-Conceptual Age The time elapsed between the day of conception and the day of delivery. The time elapsed between the day of conception and the day of delivery. C89335 Life Stage C90259 NICHD Terminology C114089 Corrected Age Corrected Age Adjusted Age || Corrected Gestational Age Chronological age reduced by the number of weeks born before 40 weeks of gestation; most appropriately used to describe children up to 3 years of age who were born preterm. Chronological age reduced by the number of weeks born before 40 weeks of gestation; most appropriately used to describe children up to 3 years of age who were born preterm. C89335 Life Stage C90259 NICHD Terminology C114090 Postmenstrual Age Postmenstrual Age Best estimate of the first day of last menstrual period to birth plus time elapsed from day of birth. Best estimate of the first day of last menstrual period to birth plus time elapsed from day of birth. C89335 Life Stage C90259 NICHD Terminology C114091 Live Birth Live Birth The complete expulsion or extraction from the mother of a fetus, irrespective of the duration of pregnancy, which, after such expulsion or extraction, breathes or shows any other evidence of life, such as beating of the heart, pulsation of the umbilical cord, or definite movement of voluntary muscles. The complete expulsion or extraction from the mother of a fetus, irrespective of the duration of pregnancy, which, after such expulsion or extraction, breathes or shows any other evidence of life, such as beating of the heart, pulsation of the umbilical cord, or definite movement of voluntary muscles. C90491 Pregnancy Outcome C90259 NICHD Terminology C114092 Late Preterm Birth Late Preterm Birth Late Pre-Term Birth when a fetus is between 34 weeks and 0 days through 36 weeks and 6 days gestational age. Birth at 34 weeks and 0 days through 36 weeks and 6 days gestation. C90491 Pregnancy Outcome C90259 NICHD Terminology C114093 Term Birth Term Birth Term Birth at greater than or equal to 37 weeks using best estimated due date. Birth at greater than or equal to 37 weeks and less than 42 weeks gestation using best estimated due date. C90491 Pregnancy Outcome C90259 NICHD Terminology C114094 Early Term Birth Early Term Birth Early Term Birth at 37 weeks and 0 days through 38 weeks and 6 days. Birth at 37 weeks and 0 days through 38 weeks and 6 days gestation. C90491 Pregnancy Outcome C90259 NICHD Terminology C114095 Full Term Birth Full Term Birth Full Term Birth at 39 weeks and 0 days through 40 weeks and 6 days. Birth at 39 weeks and 0 days through 40 weeks and 6 days gestation. C90491 Pregnancy Outcome C90259 NICHD Terminology C114096 Late Term Birth Late Term Birth Late Term Birth at 41 weeks and 0 days through 41 weeks and 6 days. Birth at 41 weeks and 0 days through 41 weeks and 6 days gestation. C90491 Pregnancy Outcome C90259 NICHD Terminology C114097 Post Term Birth Post Term Birth Post Term Birth at greater than or equal to 42 weeks and 0 days. Birth at greater than or equal to 42 weeks and 0 days gestation. C90491 Pregnancy Outcome C90259 NICHD Terminology C114098 Intermittent Auscultation Intermittent Auscultation A method of assessing intrapartum fetal heart rate during set intervals using an external device, such as a Doppler, fetoscope or stethoscope. A method of assessing intrapartum fetal heart rate during set intervals using an external device, such as a Doppler, fetoscope or stethoscope. C90341 Pediatric Intervention or Procedure C90259 NICHD Terminology C114099 Intrauterine Resuscitation Intrauterine Resuscitation Treatments or maneuvers applied to the mother to improve uterine perfusion or oxygen delivery to the fetus in response to abnormal fetal heart rate patterns. Treatments or maneuvers applied to the mother to improve uterine perfusion or oxygen delivery to the fetus in response to abnormal fetal heart rate patterns. C49236 Therapeutic Procedure C90259 NICHD Terminology C114100 Fetal Scalp Sampling Fetal Scalp Sampling Fetal Scalp pH Measurement A technique used to evaluate fetal acid-base status during labor by obtaining a capillary blood specimen from the fetus. A technique used to evaluate fetal acid-base status during labor by obtaining a capillary blood specimen from the fetus. C49286 Hematology Test C90259 NICHD Terminology C114102 Spontaneous Labor and Birth Spontaneous Labor and Birth Initiation of labor without the use of pharmacological and/or mechanical interventions, resulting in a non-operative vaginal birth. (reVITALize) Initiation of labor without the use of pharmacological and/or mechanical interventions, resulting in a non-operative vaginal birth. [verbatim from reVITALize] C92743 Labor C90259 NICHD Terminology C114104 First Degree Perineal Laceration First Degree Perineal Laceration Injury to perineal skin only. (reVITALize) Injury to perineal skin only. [verbatim from reVITALize] C3671 Injury C90259 NICHD Terminology C114105 Second Degree Perineal Laceration Second Degree Perineal Laceration Injury to perineum involving perineal muscles but not involving anal sphincter. (reVITALize) Injury to perineum involving perineal muscles but not involving anal sphincter. [verbatim from reVITALize] C3671 Injury C90259 NICHD Terminology C114106 Third Degree Perineal Laceration Third Degree Perineal Laceration Injury to perineum involving anal sphincter complex. (adapted from reVITALize) Injury to perineum involving anal sphincter complex. [adapted from reVITALize] C3671 Injury C90259 NICHD Terminology C114107 Fourth Degree Perineal Laceration Fourth Degree Perineal Laceration Injury to perineum involving anal sphincter complex and internal anal sphincter and anal epithelium. (reVITALize) Injury to perineum involving anal sphincter complex and internal anal sphincter and anal epithelium. [verbatim from reVITALize] C3671 Injury C90259 NICHD Terminology C114130 Placental Retention Placental Retention Retained Placenta After delivery of neonate, placental retention that requires clinical intervention such as manual extraction, curettage or uterotonic medications. After delivery of neonate, placental retention that requires clinical intervention such as manual extraction, curettage or uterotonic medications. C34941 Pregnancy Complication C90259 NICHD Terminology C114131 Antenatal Steroid Therapy Initiated Antenatal Steroids Initiated At least one dose of corticosteroids administered to accelerate fetal maturation. (adapted from reVITALize) At least one dose of corticosteroids administered to accelerate fetal maturation. [adapted from reVITALize] C89340 Obstetric Procedure C90259 NICHD Terminology C114132 Augmentation of Labor Augmentation of Labor The stimulation of uterine contractions using pharmacologic methods or artificial rupture of membranes (AROM) to increase their frequency and/or strength following the onset of spontaneous labor or contractions following spontaneous rupture of membranes. Does not apply if induction of labor is performed. (reVITALize) The stimulation of uterine contractions using pharmacologic methods or artificial rupture of membranes (AROM) to increase their frequency and/or strength following the onset of spontaneous labor or contractions following spontaneous rupture of membranes. Does not apply if induction of labor is performed. [verbatim from reVITALize] C92738 Assisted Labor C90259 NICHD Terminology C114133 Manual Fetal Rotation Manual Fetal Rotation A procedure during labor in which the occiput is manually rotated from posterior to anterior. A procedure during labor in which the occiput is manually rotated from posterior to anterior. C89340 Obstetric Procedure C90259 NICHD Terminology C114134 Spontaneous Vertex Delivery Spontaneous Vertex Delivery The birth of a cephalically presenting fetus without operative instrumentation or assistance. The birth of a cephalically presenting fetus without operative instrumentation or assistance. C81179 Delivery Procedure C90259 NICHD Terminology C114135 Spontaneous Breech Delivery Spontaneous Breech Delivery Spontaneous Vaginal Breech Birth The birth of a breech-presenting fetus without operative instrumentation or assistance. The birth of a breech-presenting fetus without operative instrumentation or assistance. C81179 Delivery Procedure C90259 NICHD Terminology C114136 Breech Extraction Breech Extraction The delivery of a breech-presenting fetus with that is manually pulled through the birth canal. The delivery of a breech-presenting fetus with that is manually pulled through the birth canal. C81179 Delivery Procedure C90259 NICHD Terminology C114137 Assisted Breech Delivery Assisted Breech Delivery The birth of a breech-presenting fetus with operative instrumentation or assistance. The birth of a breech-presenting fetus with operative instrumentation or assistance. C81179 Delivery Procedure C90259 NICHD Terminology C114138 Trial of Birth Labor after Cesarean Trial of Labor after Cesarean Delivery TOLAC || Trial of Labor after Caesarean || Trial of Labor after Cesarean Trial of labor in a woman with a previous cesarean delivery regardless of ultimate route of delivery. Trial of labor in a woman with a previous cesarean delivery regardless of ultimate route of delivery. C92743 Labor C90259 NICHD Terminology C114139 Primary Cesarean Birth Primary Cesarean Birth Primary Caesarean Birth The first surgical delivery of one or more intrauterine fetuses though an abdominal incision in a woman without prior cesarean delivery. The first surgical delivery of one or more intrauterine fetuses though an abdominal incision in a woman without prior cesarean delivery. C46088 Cesarean Birth C90259 NICHD Terminology C114140 Repeat Cesarean Birth Repeat Cesarean Birth Repeat Caesarean Birth The surgical delivery of one or more intrauterine fetuses though an abdominal incision in a woman who has had prior cesarean delivery(ies). The surgical delivery of one or more intrauterine fetuses though an abdominal incision in a woman who has had prior cesarean delivery(ies). C46088 Cesarean Birth C90259 NICHD Terminology C114141 Elective Cesarean Delivery Elective Cesarean Delivery Elective Caesarean Section || Elective Cesarean Section A cesarean delivery scheduled at a patient's request or provider preference without medical or obstetric indications. A cesarean delivery scheduled at a patient's request or provider preference without medical or obstetric indications. C46088 Cesarean Birth C90259 NICHD Terminology C114142 Indicated Cesarean Delivery Indicated Cesarean Delivery Indicated Caesarean Section || Indicated Cesarean Section A cesarean delivery that is performed for specific, medical or obstetric indications, which may be scheduled or unscheduled. A cesarean delivery that is performed for specific, medical or obstetric indications, which may be scheduled or unscheduled. C92720 Pregnancy Finding C90259 NICHD Terminology C114143 Delivery by Destructive Operation Delivery by Destructive Operation Destructive Procedure Extraction of a fetus through the cervix using destructive surgical techniques. Extraction of a fetus through the cervix using destructive surgical techniques. C81179 Delivery Procedure C90259 NICHD Terminology C114280 Drug Skin Rash Drug Rash An eruption in the skin due to exposure to a pharmacologic substance. An eruption in the skin due to exposure to a pharmacologic substance. C3507 Immune System Disorder C90259 NICHD Terminology C114281 Parotitis Parotitis Inflammation of the parotid glands. Inflammation of the parotid glands. C118420 Otolaryngologic Disorder C90259 NICHD Terminology C114282 Uterine Dehiscence Uterine Dehiscence Asymptomatic separation of the uterine wall, usually at the site of a prior uterine scar, that does not include the overlying serosa. Asymptomatic separation of the uterine wall, usually at the site of a prior uterine scar, that does not include the overlying serosa. C34941 Pregnancy Complication C90259 NICHD Terminology C114345 Type II Hypersensitivity Type II Hypersensitivity Reaction Type 2 Hypersensitivity Reaction A hypersensitivity reaction mediated by antibodies formed against cell surface antigens. A hypersensitivity reaction mediated by antibodies formed against cell surface antigens. C3114 Hypersensitivity Reaction C90259 NICHD Terminology C114346 Type III Hypersensitivity Type III Hypersensitivity Reaction Type 3 Hypersensitivity Reaction A hypersensitivity reaction resulting from the deposition of antigen-antibody immune complexes in tissues, which trigger activation of the complement system. A hypersensitivity reaction resulting from the deposition of antigen-antibody immune complexes in tissues, which trigger activation of the complement system. C3114 Hypersensitivity Reaction C90259 NICHD Terminology C114347 Juvenile Spondyloarthritis Juvenile Spondyloarthritis JSpA || Juvenile Spondyloarthropathy A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood. Onset of spondyloarthritis before 18 years of age, and less commonly associated with axial disease. Encompasses the juvenile idiopathic arthritis categories of enthesitis-related arthritis and psoriatic arthritis, and includes many cases of undifferentiated arthritis. C2889 Autoimmune Disease C90259 NICHD Terminology C114354 Drug Induced Lupus Erythematosus Drug Induced Lupus Erythematosus Drug Induced Lupus || Drug-Induced Lupus An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs. A lupus-like condition which occurs after exposure to a specific pharmacologic agent and typically resolves after discontinuation of the agent. C3507 Immune System Disorder C90259 NICHD Terminology C114357 Juvenile Idiopathic Arthritis Juvenile Idiopathic Arthritis JIA A group of chronic, inflammatory childhood disorders of unknown etiology that primarily involve joints. An umbrella term for arthritis of unknown etiology that begins before the sixteenth birthday, and persists for at least six weeks; other known conditions are excluded. Categories include: systemic, oligoarticular, polyarticular rheumatoid factor positive, polyarticular rheumatoid factor negative, psoriatic, enthesitis-related, or undifferentiated. C2889 Autoimmune Disease C90259 NICHD Terminology C114358 Juvenile Polymyositis Juvenile Polymyositis An idiopathic inflammatory myopathy of childhood resulting in muscle weakness. An idiopathic inflammatory myopathy of childhood resulting in muscle weakness. C2889 Autoimmune Disease C90259 NICHD Terminology C114361 Juvenile Psoriatic Arthritis Juvenile Psoriatic Arthritis Childhood arthritis typically associated with psoriasis. Childhood arthritis typically associated with psoriasis. C2889 Autoimmune Disease C90259 NICHD Terminology C114370 Antepartum Uterine Rupture Antepartum Uterine Rupture An acute symptomatic tearing of the uterine wall prior to the onset of labor. An acute symptomatic tearing of the uterine wall prior to the onset of labor. C34941 Pregnancy Complication C90259 NICHD Terminology C114371 Antepartum Hemorrhage Antepartum Hemorrhage Excessive blood loss prior to onset of labor. Excessive blood loss prior to onset of labor. C34941 Pregnancy Complication C90259 NICHD Terminology C114372 Intrapartum Uterine Rupture Intrapartum Uterine Rupture An acute symptomatic tearing of the uterine wall after the onset of labor. An acute symptomatic tearing of the uterine wall after the onset of labor. C34941 Pregnancy Complication C90259 NICHD Terminology C114373 Intrapartum Shock Intrapartum Shock Severe loss of blood pressure leading to inadequate tissue perfusion after the onset of labor but prior to the delivery of the fetus. Severe loss of blood pressure leading to inadequate tissue perfusion after the onset of labor but prior to the delivery of the fetus. C34941 Pregnancy Complication C90259 NICHD Terminology C114374 Intrapartum Pyrexia Intrapartum Pyrexia Intrapartum Fever Elevated body temperature greater than or equal to 38C (100.4F) after the onset of labor but prior to the delivery of the fetus. Elevated body temperature greater than or equal to 38C (100.4F) after the onset of labor but prior to the delivery of the fetus. C34941 Pregnancy Complication C90259 NICHD Terminology C114375 Early Postpartum Hemorrhage Early Postpartum Hemorrhage Primary Postpartum Hemorrhage Cumulative blood loss of greater than or equal to 1000 ML or blood loss accompanied by signs or symptoms of hypovolemia within 24 hours following the birth process (includes intrapartum loss). (reVITALize) Cumulative blood loss of greater than or equal to 1000 ML or blood loss accompanied by signs or symptoms of hypovolemia within 24 hours following the birth process (includes intrapartum loss). [verbatim from reVITALize] C92853 Postpartum Hemorrhage C90259 NICHD Terminology C114376 Late Postpartum Hemorrhage Late Postpartum Hemorrhage Delayed Postpartum Hemorrhage || Secondary Postpartum Hemorrhage Excessive blood loss between 24 hours after delivery through four weeks that requires intervention. Excessive blood loss between 24 hours after delivery through four weeks that requires intervention. C92853 Postpartum Hemorrhage C90259 NICHD Terminology C114377 Postpartum Uterine Inversion Postpartum Uterine Inversion Protrusion of the uterine fundus through the cervix when the placenta fails to detach from the uterus as it exits. Protrusion of the uterine fundus through the cervix when the placenta fails to detach from the uterus as it exits. C116323 Postpartum Complication C90259 NICHD Terminology C114388 Postpartum Acute Renal Failure Postpartum Acute Renal Failure Renal failure that occurs postpartum due to any partum problem (hemorrhage, sepsis, preeclampsia). Renal failure that occurs postpartum due to any partum problem (hemorrhage, sepsis, preeclampsia). C116323 Postpartum Complication C90259 NICHD Terminology C114389 Postpartum Thyroiditis Postpartum Thyroiditis Inflammatory disorder of thyroid gland that occurs postpartum due to any partum problem. Inflammatory disorder of thyroid gland that occurs postpartum due to any partum problem. C116323 Postpartum Complication C90259 NICHD Terminology C114404 Postpartum Shock Postpartum Shock Severe loss of blood pressure leading to inadequate tissue perfusion after the delivery of the fetus. Severe loss of blood pressure leading to inadequate tissue perfusion after the delivery of the fetus. C116323 Postpartum Complication C90259 NICHD Terminology C114405 Postpartum Pyrexia Postpartum Pyrexia Postpartum Fever A sustained temperature of 38C (100.4F) or greater beyond the first 24 hours following birth, or a temperature of 39C (102.2F) within the first 24 hours following birth. (adapted from ACOG) A sustained temperature of 38C (100.4F) or greater beyond the first 24 hours following birth, or a temperature of 39C (102.2F) within the first 24 hours following birth. [adapted from ACOG] C116323 Postpartum Complication C90259 NICHD Terminology C114409 Agalactia Agalactia Agalactorrhea Lack of production or secretion of breast milk. Lack of production or secretion of breast milk. C3009 Endocrine System Disorder C90259 NICHD Terminology C114419 Lactation Suppression Lactation Suppression Active suspension of lactation using a medical or physical intervention. Active suspension of lactation using a medical or physical intervention. C49236 Therapeutic Procedure C90259 NICHD Terminology C114470 Enthesitis Enthesitis Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone. Inflammation where ligaments, tendons, and other fibrous structures attach to bone. C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C114471 Macrophage Activation Syndrome Macrophage Activation Syndrome MAS || Reactive Hemophagocytic Lymphohistiocytosis A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms. A potentially fatal complication of rheumatic disease characterized by fever, pancytopenia, hemophagocytosis, hyperferritinemia, liver insufficiency, coagulopathy and neurologic symptoms. C3507 Immune System Disorder C90259 NICHD Terminology C114472 Radiation Damage Radiation Damage Injury resulting from exposure to ionizing radiation. Injury resulting from exposure to ionizing radiation. C3671 Injury C90259 NICHD Terminology C114476 Allergic Reaction Allergic Reaction An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures. A hypersensitivity reaction triggered by exposure to a previously encountered foreign substance to which the individual has formed antibodies. C3507 Immune System Disorder C90259 NICHD Terminology C114477 Proximal Tubulopathy Proximal Tubulopathy Proximal Renal Tubule Defect A proximal renal tubular disorder resulting in diminished reabsorption of phosphate, glucose, amino acids, urate, and low molecular weight proteins. A proximal renal tubular disorder resulting in diminished reabsorption of phosphate, glucose, amino acids, urate, and low molecular weight proteins. C3149 Kidney Disease C90259 NICHD Terminology C114478 Metabolic Alkalosis Metabolic Alkalosis Abnormally increased pH levels in the blood due to excessive loss of acid and/or accumulation of base. Abnormally increased pH levels in the blood due to excessive loss of acid and/or accumulation of base. C27120 Electrolyte Disorder C90259 NICHD Terminology C114479 Ureter Compression Ureteral Compression Narrowing of the luminal diameter of one or both ureters due to extrinsic pressure. Narrowing of the luminal diameter of one or both ureters due to extrinsic pressure. C36286 Urinary System Finding C90259 NICHD Terminology C114483 Childhood Langerhans Cell Histiocytosis Childhood Langerhans Cell Histiocytosis Langerhans cell histiocytosis that occurs during childhood. Langerhans cell histiocytosis that occurs during childhood. C3106 Histiocytosis C90259 NICHD Terminology C114561 Breastfeeding Jaundice Breastfeeding Jaundice Yellow coloring of skin, mucous membranes and eyes in an otherwise healthy breast-fed newborn due to insufficient intake of maternally-expressed milk. It commonly appears four to seven days after birth. Yellow coloring of skin, mucous membranes and eyes in an otherwise healthy breast-fed newborn due to insufficient intake of maternally-expressed milk. It commonly appears four to seven days after birth. C3143 Jaundice C90259 NICHD Terminology C114565 Anti-ds DNA Antibody Anti-ds DNA Antibody Anti-Double Stranded DNA Antibody || Anti-dsDNA Antibody A type of antinuclear antibody that specifically targets double stranded DNA; while these antibodies are sometimes detectable in multiple different autoimmune disorders, their presence is generally considered highly specific for systemic lupus erythematosus. An antinuclear antibody that specifically recognizes double-stranded DNA. Their presence is highly specific for systemic lupus erythematosus. C16295 Antibody C90259 NICHD Terminology C114583 Drug-Induced Nephropathy Drug-Induced Kidney Injury Drug-Induced Renal Failure || Toxic Nephropathy Kidney damage resulting from exposure to drugs. Kidney damage resulting from exposure to drugs. C3149 Kidney Disease C90259 NICHD Terminology C114585 Calcineurin Nephrotoxicity Calcineurin Nephrotoxicity Calcineurin Inhibitor Nephrotoxicity Kidney injury caused by calcineurin inhibitor immunosuppressive therapy which may lead to diminished kidney function. Kidney injury caused by calcineurin inhibitor immunosuppressive therapy which may lead to diminished kidney function. C3149 Kidney Disease C90259 NICHD Terminology C114592 Renal Impairment Kidney Impairment Renal Impairment Diminished kidney function. Diminished kidney function. C3149 Kidney Disease C90259 NICHD Terminology C114666 Hemorrhagic Cystitis Hemorrhagic Cystitis Inflammation of the bladder resulting in bloody urine. Inflammation of the bladder resulting in bloody urine. C3149 Kidney Disease C90259 NICHD Terminology C114667 Nephrolithiasis Kidney Stone Nephrolithiasis || Renal Calculi The presence of a calculus in the pelvis of the kidney; this is most often composed of mineral salts and proteins. A crystalline mass in the pelvis of the kidney that is composed of mineral salts and proteins. C36286 Urinary System Finding C90259 NICHD Terminology C114688 Urolithiasis Urolithiasis Urinary Stones Stone(s) within the urinary tract. Stone(s) within the urinary tract. C3430 Urinary System Disorder C90259 NICHD Terminology C114698 Oliguria Oliguria Decreased Urine Output Abnormally low urine output. Abnormally low urine output. C36286 Urinary System Finding C90259 NICHD Terminology C114699 Anuria Anuria Absence of urine output. Absence of urine output. C100104 Sign or Symptom C90259 NICHD Terminology C114702 Gross Hematuria Gross Hematuria Visible Hematuria The visible presence of blood in the urine. The visible presence of blood in the urine. C36286 Urinary System Finding C90259 NICHD Terminology C114705 Myoglobinuria Myoglobinuria The presence of myoglobin in the urine. The presence of myoglobin in the urine. C36292 Laboratory Test Result C90259 NICHD Terminology C114707 Hypercalciuria Hypercalcuria Abnormally high level of calcium in the urine. Abnormally high level of calcium in the urine. C36292 Laboratory Test Result C90259 NICHD Terminology C114708 Hypocitraturia Hypocitraturia Abnormally low level of citrate in the urine. Abnormally low level of citrate in the urine. C36292 Laboratory Test Result C90259 NICHD Terminology C114714 Dialysis Membrane Reaction Dialysis Membrane Reaction Dialyzer Reaction A severe hypersensitivity-like reaction occurring during dialysis due to exposure to the dialysis membrane. A severe hypersensitivity-like reaction occurring during dialysis due to exposure to the dialysis membrane. C3114 Hypersensitivity Reaction C90259 NICHD Terminology C114717 Dialysis Catheter Fracture Dialysis Catheter Fracture A crack or break in a dialysis catheter caused by material weakness or mechanical compression. A crack or break in a dialysis catheter caused by material weakness or mechanical compression. C116081 Dialysis Access Complication C90259 NICHD Terminology C114722 Dialysis Catheter Embolism Dialysis Catheter Embolism An obstruction of a vessel caused by a detached fragment of an indwelling dialysis catheter. An obstruction of a vessel caused by a detached fragment of an indwelling dialysis catheter. C116081 Dialysis Access Complication C90259 NICHD Terminology C114723 Dialysis Catheter Infection Dialysis Catheter Infection A local or systemic infection associated with the use of a dialysis catheter. A local or systemic infection associated with the use of a dialysis catheter. C116081 Dialysis Access Complication C90259 NICHD Terminology C114724 Hemodialysis Catheter Infection Hemodialysis Catheter Infection A local or systemic infection associated with the use of a hemodialysis catheter. A local or systemic infection associated with the use of a hemodialysis catheter. C116081 Dialysis Access Complication C90259 NICHD Terminology C114725 Peritoneal Dialysis Catheter Infection Peritoneal Dialysis Catheter Infection A local or systemic infection associated with the use of a peritoneal dialysis catheter. A local or systemic infection associated with the use of a peritoneal dialysis catheter. C116081 Dialysis Access Complication C90259 NICHD Terminology C114726 Dialysis Catheter Tunnel Infection Dialysis Catheter Tunnel Infection Tunnel Infection Associated with Dialysis Access Local infection involving the subcutaneously tunneled portion of a dialysis catheter. Local infection involving the subcutaneously tunneled portion of a dialysis catheter. C116081 Dialysis Access Complication C90259 NICHD Terminology C114727 Dialysis Catheter Exit Site Infection Dialysis Catheter Exit Site Infection Local infection at the dialysis catheter exit site. Local infection at the dialysis catheter exit site. C116081 Dialysis Access Complication C90259 NICHD Terminology C114728 Hemodialysis Catheter-Associated Bacteremia Hemodialysis Catheter-Associated Bacteremia The presence of bacteria in the blood caused by an infected hemodialysis catheter. A bacteremia resulting from an infection of a hemodialysis catheter. C116081 Dialysis Access Complication C90259 NICHD Terminology C114751 Peritoneal Dialysis Catheter-Associated Peritonitis Peritoneal Dialysis Catheter-Associated Peritonitis Infection of the peritoneum related to a peritoneal dialysis catheter. Infection of the peritoneum related to a peritoneal dialysis catheter. C116081 Dialysis Access Complication C90259 NICHD Terminology C114752 Chemical Peritonitis Chemical Peritonitis A non-infectious inflammation of the peritoneum. A non-infectious inflammation of the peritoneum. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C114753 AV Fistula Aneurysm AV Fistula Aneurysm Arteriovenous Fistula Aneurysm A bulge in a weakened vessel wall segment of an arteriovenous fistula. A bulge in a weakened vessel wall segment of a therapeutic arteriovenous fistula. C116081 Dialysis Access Complication C90259 NICHD Terminology C114754 AV Fistula Stenosis AV Fistula Stenosis Arteriovenous Fistula Stenosis Narrowing of the lumen of an arteriovenous fistula. Narrowing of the lumen of an therapeutic arteriovenous fistula. C116081 Dialysis Access Complication C90259 NICHD Terminology C114756 AV Fistula Thrombosis AV Fistula Thrombosis Arteriovenous Fistula Thrombosis Partial or complete occlusion of the lumen within an arteriovenous fistula by a thrombus. Partial or complete occlusion of the lumen within an therapeutic arteriovenous fistula by a thrombus. C116081 Dialysis Access Complication C90259 NICHD Terminology C114758 AV Graft Aneurysm AV Graft Aneurysm Arteriovenous Graft Aneurysm A bulge in a weakened wall segment of an arteriovenous graft. A bulge in a weakened wall segment of an arteriovenous graft. C116081 Dialysis Access Complication C90259 NICHD Terminology C114759 Childhood Brain Stem Gliosarcoma Childhood Brain Stem Gliosarcoma A gliosarcoma that arises from the brain stem and occurs during childhood. A gliosarcoma that arises from the brain stem and occurs during childhood. C9042 Childhood Brain Stem Glioma C114968 Childhood Gliosarcoma C90259 NICHD Terminology C114760 Childhood Brain Stem Mixed Glioma Childhood Brain Stem Mixed Glioma A mixed glioma that arises from the brain stem and occurs during childhood. A mixed glioma that arises from the brain stem and occurs during childhood. C115195 Childhood Mixed Glioma C9042 Childhood Brain Stem Glioma C90259 NICHD Terminology C114762 AV Graft Stenosis AV Graft Stenosis Arteriovenous Graft Stenosis Narrowing of the lumen of an arteriovenous graft. Narrowing of the lumen of an arteriovenous graft. C116081 Dialysis Access Complication C90259 NICHD Terminology C114763 AV Graft Thrombosis AV Graft Thrombosis Arteriovenous Graft Thrombosis Partial or complete occlusion of the lumen of an arteriovenous graft by a thrombus. Partial or complete occlusion of the lumen of an arteriovenous graft by a thrombus. C116081 Dialysis Access Complication C90259 NICHD Terminology C114764 Dialysis Catheter Obstruction Dialysis Catheter Obstruction Blockage of a dialysis catheter by a thrombus or other substance. Blockage of a dialysis catheter by a thrombus or other substance. C116081 Dialysis Access Complication C90259 NICHD Terminology C114772 Extracorporeal Circuit Clot Extracorporeal Circuit Clot Thrombus formation within an apparatus that carries blood outside of the body, such as pheresis, dialysis or extracorporeal membrane oxygenation (ECMO). Thrombus formation within an apparatus that carries blood outside of the body, such as pheresis, dialysis or extracorporeal membrane oxygenation (ECMO). C2959 Complication C90259 NICHD Terminology C114774 Childhood Supratentorial Embryonal Tumor, Not Otherwise Specified Childhood Supratentorial Primitive Neuroectodermal Tumor Childhood Supratentorial PNET A supratentorial embryonal tumor, not otherwise specified that occurs in childhood. A supratentorial, primitive, neuroectodermal tumor that occurs during childhood. C5961 Childhood Central Nervous System Primitive Neuroectodermal Tumor C90259 NICHD Terminology C114775 Childhood Central Nervous System Neuroblastoma Childhood Cerebral Neuroblastoma A neuroblastoma that arises from the cerebral hemispheres and occurs during childhood. A neuroblastoma that arises from the cerebral hemispheres during childhood. C124270 Childhood Neuroblastoma C90259 NICHD Terminology C114776 Dialyzer Blood Leakage Dialyzer Blood Leak Leakage of blood into the dialysate during hemodialysis due to apparatus malfunction. Leakage of blood into the dialysate during hemodialysis due to apparatus malfunction. C2959 Complication C90259 NICHD Terminology C114780 AV Fistula Maturation Failure AV Fistula Maturation Failure Arteriovenous Fistula Maturation Failure Inadequate development of an arteriovenous fistula within three months of creation. Inadequate development of an therapeutic arteriovenous fistula within three months of creation. C116081 Dialysis Access Complication C90259 NICHD Terminology C114781 Dialysis Disequilibrium Syndrome Dialysis Disequilibrium Syndrome Disequilibrium Syndrome A complication occurring during hemodialysis that is thought to be due to a rapid decrease in blood urea nitrogen, and is characterized by an increase in intracranial pressure resulting in nausea, headache, vomiting, restlessness, and/or a decreased level of consciousness. A complication occurring during hemodialysis that is thought to be due to a rapid decrease in blood urea nitrogen, and is characterized by an increase in intracranial pressure resulting in nausea, headache, vomiting, restlessness, and/or a decreased level of consciousness. C2959 Complication C90259 NICHD Terminology C114789 Tetany Tetany Sudden and involuntary contraction of a muscle of group of muscles due to hypocalcemia. Sudden and involuntary contraction of a muscle or group of muscles due to hypocalcemia. C100104 Sign or Symptom C90259 NICHD Terminology C114798 Elevated Blood Pressure Measurement Elevated Blood Pressure Measurement An abnormally high blood pressure reading. An abnormally high blood pressure reading. C35552 Cardiovascular System Finding C90259 NICHD Terminology C114801 Childhood Gonadal Germ Cell Tumor Childhood Gonadal Germ Cell Tumor A germ cell tumor that arises from the testis or ovary and occurs during childhood. A germ cell tumor that arises from the testis or ovary and occurs during childhood. C68627 Childhood Extracranial Germ Cell Tumor C90259 NICHD Terminology C114802 Page Kidney Page Kidney Hypertension resulting from activation of the renin-angiotensin system in response to prolonged compression of the renal parenchyma and blood vessels. Hypertension resulting from activation of the renin-angiotensin system in response to prolonged compression of the renal parenchyma and blood vessels. C9229 Systemic Disorder C90259 NICHD Terminology C114812 Childhood Pineoblastoma Childhood Pineoblastoma A pineoblastoma that occurs during childhood. A pineoblastoma that occurs during childhood. C115196 Childhood Pineal Parenchymal Cell Neoplasm C90259 NICHD Terminology C114821 Tertiary Hyperparathyroidism Tertiary Hyperparathyroidism An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism. Unregulated secretion of parathyroid hormone following prolonged secondary hyperparathyroidism. C3009 Endocrine System Disorder C90259 NICHD Terminology C114827 Renal Osteodystrophy Renal Osteodystrophy Abnormalities of bone mineral metabolism associated with chronic kidney disease. Abnormalities of bone mineral metabolism associated with chronic kidney disease. C3149 Kidney Disease C90259 NICHD Terminology C114830 Vitamin D Deficiency Vitamin D Deficiency Abnormally low level of 25-hydroxyvitamin D in the blood. Abnormally low level of 25-hydroxyvitamin D in the blood. C35772 Vitamin Deficiency Disorder C90259 NICHD Terminology C114833 Childhood Central Nervous System Embryonal Neoplasm Childhood Central Nervous System Embryonal Neoplasm A central nervous system embryonal neoplasm that occurs during childhood. An embryonal neoplasm that arises from the central nervous system during childhood. C5448 Malignant Childhood Central Nervous System Neoplasm C90259 NICHD Terminology C114837 Uremic Pericarditis Uremic Pericarditis Inflammation of the pericardium associated with chronic kidney failure. Inflammation of the pericardium associated with chronic kidney failure. C34915 Pericarditis C90259 NICHD Terminology C114838 Acute Allograft Nephropathy Acute Kidney Allograft Nephropathy Kidney Transplant Rejection A sudden immune response occurring after transplantation, directed against donor kidney alloantigens. A sudden immune response occurring after transplantation, directed against donor kidney alloantigens. C3149 Kidney Disease C90259 NICHD Terminology C114839 Acute Cellular Allograft Nephropathy Acute Cellular Kidney Allograft Nephropathy A sudden onset of T-cell mediated immune response occurring after transplantation, directed against donor kidney alloantigens. A sudden onset of T-cell mediated immune response occurring after transplantation, directed against donor kidney alloantigens. C3149 Kidney Disease C90259 NICHD Terminology C114841 Acute Humoral Allograft Nephropathy Acute Humoral Kidney Allograft Nephropathy A sudden onset of B-cell mediated immune response occurring after transplantation, directed against donor kidney alloantigens. A sudden onset of B-cell mediated immune response occurring after transplantation, directed against donor kidney alloantigens. C3149 Kidney Disease C90259 NICHD Terminology C114844 Renal Allograft Thrombosis Kidney Allograft Thrombosis Thrombus formation within the arterial or venous system of a donor kidney post transplantation. Thrombus formation within the arterial or venous system of a donor kidney post transplantation. C26891 Thrombosis C90259 NICHD Terminology C114845 Extraosseous Calcification Extraosseous Calcification Deposition of calcium in tissues outside of bone. Deposition of calcium in tissues outside of bone. C9229 Systemic Disorder C90259 NICHD Terminology C114846 Vascular Calcification Vascular Calcification Deposition of calcium in vascular structures. Deposition of calcium in vascular structures. C35552 Cardiovascular System Finding C90259 NICHD Terminology C114847 Human Leukocyte Antigen Sensitization Human Leukocyte Antigen Sensitization Presence of preformed antibodies to donor human leukocyte antigen (HLA). Presence of preformed antibodies to donor human leukocyte antigen (HLA). C3507 Immune System Disorder C90259 NICHD Terminology C114848 Hyperacute Allograft Rejection Hyperacute Allograft Rejection An immediate rejection of transplanted tissue caused by the presence of preformed antibodies to donor human leukocyte antigens. An immediate rejection of transplanted tissue caused by the presence of preformed antibodies to donor human leukocyte antigens. C3507 Immune System Disorder C90259 NICHD Terminology C114849 Right Atrial Thrombus Right Atrial Thrombus A blood clot in the right atrium of the heart. A blood clot in the right atrium of the heart. C111118 Atrial Thrombus C90259 NICHD Terminology C114850 Subclavian Vein Stenosis Subclavian Vein Stenosis Narrowing of the lumen of the subclavian vein. Narrowing of the lumen of the subclavian vein. C35117 Vascular Disorder C90259 NICHD Terminology C114851 Renal Lymphocele Renal Lymphocele Kidney Lymphocele Encapsulated collection of lymphatic fluid around a transplanted kidney. Encapsulated collection of lymphatic fluid around a transplanted kidney. C3149 Kidney Disease C90259 NICHD Terminology C114852 New Onset Diabetes After Transplant New Onset Diabetes After Transplant Development of diabetes after transplant, usually associated with calcineurin inhibitor use. Development of diabetes after transplant, usually associated with calcineurin inhibitor use. C2985 Diabetes Mellitus C90259 NICHD Terminology C114853 Delayed Graft Function Delayed Graft Function The need for dialysis within a week of kidney transplant. The need for dialysis within a week of transplant. C116081 Dialysis Access Complication C90259 NICHD Terminology C114868 Arrest of Labor in Active Phase Arrest of Labor in Active Phase Active Phase Arrest || Prolonged Active Phase of Labor || Prolonged First Stage of Labor More than or equal to 6 cm dilation with membrane rupture and one of the following: 4 hours or more of adequate contractions (e.g. more than 200 Montevideo units), 6 hours or more of inadequate contractions and no cervical change. More than or equal to 6 cm dilation with membrane rupture and one of the following: 4 hours or more of adequate contractions (e.g. more than 200 Montevideo units), 6 hours or more of inadequate contractions and no cervical change. C118419 Labor Complication C90259 NICHD Terminology C114869 Arrest of Labor in Second Stage Arrest of Labor in Second Stage Prolonged Second Stage of Labor || Second Stage Arrest At least 2 hours of pushing in multiparous women and at least 3 hours of pushing in nulliparous women. Longer durations may be appropriate on an individualized basis (e.g., with the use of epidural analgesia or with fetal malposition) as long as progress is being documented. At least 2 hours of pushing in multiparous women and at least 3 hours of pushing in nulliparous women. Longer durations may be appropriate on an individualized basis (e.g., with the use of epidural analgesia or with fetal malposition) as long as progress is being documented). C118419 Labor Complication C90259 NICHD Terminology C114870 Post-Natal Death at 16-20 Weeks Gestation Post-Natal Death at 16-20 Weeks Gestation A fetus of 16-20 weeks gestational age that shows signs of life at birth but dies after delivery. A fetus of 16-20 weeks gestational age that shows signs of life at birth but dies after delivery. C80082 Neonatal Death C90259 NICHD Terminology C114871 Prolonged Latent Phase of Labor Prolonged Latent Phase of Labor Arrest of Labor in the Latent Phase || Latent Phase Arrest Greater than 20 hours of labor in nulliparous women and greater than 14 hours in parous women. Greater than 20 hours of labor in nulliparous women and greater than 14 hours in parous women. C118419 Labor Complication C90259 NICHD Terminology C114872 Acute Intrapartum Hypoxic Event Acute Intrapartum Hypoxic Event Acute Intrapartum Hypoxia A sentinel hypoxic event occurring during labor, with evidence of fetal metabolic acidosis in the fetal umbilical arterial blood; a sudden and sustained fetal bradycardia or the absence of fetal heart rate variability in the presence of persistent, late, or variable decelerations (category III tracing); previously normal Apgar scores that are 0-3 beyond 5 minutes. An event occurring during labor, with evidence of fetal umbilical artery acidemia (pH less than 7.00 or a base deficit greater than or equal to 12 mmol/L). C81236 Birth Complication C90259 NICHD Terminology C114873 Fetus Large for Gestational Age Fetal Large for Gestational Age Fetal LGA A fetus exceeding 90% of expected weight for gestational age. A fetus exceeding 90% of expected weight for gestational age. C92711 Fetal Finding C90259 NICHD Terminology C114875 Fetus Small for Gestational Age Fetus Small for Gestational Age Fetal Growth Restriction || Fetal SGA || Fetal Small for Gestational Age || IUGR || Intrauterine Growth Restriction A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age. A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age. C92711 Fetal Finding C90259 NICHD Terminology C114876 Fetus Small for Gestational Age with Oligohydraminos Fetal Small for Gestational Age with Oligohydramnios Fetal SGA with Oligohydramnios A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age and shows evidence of oligohydramnios. A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age and shows evidence of oligohydramnios. C114875 Fetus Small for Gestational Age C90259 NICHD Terminology C114877 Fetus Small for Gestational Age with Abnormal Doppler Fetal Small for Gestational Age with Abnormal Dopplers Fetal SGA with Abnormal Dopplers A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age and has abnormal Doppler studies. A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age and has abnormal Doppler studies. C114875 Fetus Small for Gestational Age C90259 NICHD Terminology C114878 Fetus Small for Gestational Age with Abdominal Circumference Less than Tenth Percentile Fetal Small for Gestational Age with Abdominal Circumference Less than Tenth Percentile Fetal SGA with Abdominal Circumference Less than Tenth Percentile A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age and whose abdominal circumference falls below the tenth percentile. A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age and whose abdominal circumference falls below the tenth percentile. C114875 Fetus Small for Gestational Age C90259 NICHD Terminology C114899 Transient Neonatal Diabetes Mellitus Transient Neonatal Diabetes Mellitus Hyperglycemia in the first month of life due to a genetically determined defect in the structure, secretion and/or function of insulin that resolves spontaneously within nine months of onset. Neonatal diabetes mellitus that resolves spontaneously. C99248 Neonatal Diabetes Mellitus C90259 NICHD Terminology C114902 Permanent Neonatal Diabetes Mellitus Permanent Neonatal Diabetes Mellitus Hyperglycemia in the first month of life due to a genetically determined defect in the structure, secretion and/or function of insulin that does not resolve spontaneously. Monogenic neonatal diabetes mellitus that does not resolves spontaneously. C99248 Neonatal Diabetes Mellitus C90259 NICHD Terminology C114906 Neonatal Thyrotoxicosis Neonatal Thyrotoxicosis Infantile Hyperthyroidism A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins. A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins. C61469 Thyrotoxicosis C98996 Neonatal Disorder C90259 NICHD Terminology C114907 Transient Neonatal Hypoparathyroidism Transient Neonatal Hypoparathyroidism A disorder of decreased production of parathyroid hormone by the parathyroid gland in a newborn. It is due to maternal hyperparathyroidism. It may be characterized by hypocalcemic seizures in the first weeks of life. A disorder of decreased production of parathyroid hormone by the parathyroid gland in a newborn. It is due to maternal hyperparathyroidism. It may be characterized by hypocalcemic seizures in the first weeks of life. C78350 Hypoparathyroidism C98996 Neonatal Disorder C90259 NICHD Terminology C114909 Necrotizing Enterocolitis Totalis Necrotizing Enterocolitis Totalis A severe and often fatal form of necrotizing enterocolitis, in which diffuse ischemia, necrosis, and pneumatosis intestinalis are evident in the small and large intestine. Short bowel syndrome is common among survivors. A severe and often fatal form of necrotizing enterocolitis, in which diffuse ischemia, necrosis, and pneumatosis intestinalis are evident in the small and large intestine. Short bowel syndrome is common among survivors. C84915 Necrotizing Enterocolitis C90259 NICHD Terminology C114910 Spontaneous Intestinal Perforation Spontaneous Intestinal Perforation A focal intestinal perforation without a definite cause, commonly located in the terminal ileum, lacking the transmural inflammation and/or pneumatosis typically seen in necrotizing enterocolitis. A focal intestinal perforation without a definite cause, commonly located in the terminal ileum, lacking the transmural inflammation and/or pneumatosis typically seen in necrotizing enterocolitis. C79470 Gastrointestinal Perforation C90259 NICHD Terminology C114928 Infant Formula Intolerance Infant Formula Intolerance Breast Milk Substitute Intolerance Inability to effectively digest or absorb the components of breast milk substitutes. Symptoms may include emesis, abdominal distension or diarrhea. Inability to effectively digest or absorb the components of breast milk substitutes. Symptoms may include emesis, abdominal distension or diarrhea. C2959 Complication C90259 NICHD Terminology C114934 Small for Gestational Age Small for Gestational Age Small For Dates Baby A newborn infant who has weight and/or length at birth more than two standard deviations below the mean for the reference population of the same sex and gestational age. Weight and/or length at birth more than two standard deviations below the mean for the reference population of the same sex and gestational age. C34941 Pregnancy Complication C90259 NICHD Terminology C114935 Very Low Birth Weight Very Low Birth Weight Birth weight less than 1500 grams. Birth weight less than 1500 grams. C76325 Birth Weight C90259 NICHD Terminology C114936 Extremely Low Birth Weight Extremely Low Birth Weight Birth weight less than 1000 grams. Birth weight less than 1000 grams. C76325 Birth Weight C90259 NICHD Terminology C114938 Late Preterm Infant Late Preterm Infant Near Term Infant An age group comprised of infants greater than or equal to 34 weeks, 0 days and less than 37 weeks, 0 days gestational age. A newborn infant greater than or equal to 34 weeks, 0 days and less than 37 weeks, 0 days gestational age. C16731 Newborn C90259 NICHD Terminology C114939 Extremely Preterm Infant Extremely Preterm Infant Extreme Immaturity An age group comprised of infants less than 28 weeks, 0 days gestational age. A newborn infant less than 28 weeks, 0 days gestational age. C16731 Newborn C90259 NICHD Terminology C114947 Postterm Infant Postterm Infant Post Dates || Postmature An age group comprised of infants greater than or equal to 42 weeks, 0 days gestational age. A newborn infant greater than or equal to 42 weeks, 0 days gestational age. C16731 Newborn C90259 NICHD Terminology C114960 Congenital Disruption Congenital Disruption A morphologic defect of an organ, part of an organ, or a larger region of the body that results from the extrinsic breakdown of, or an interference with, an originally normal developmental process. A morphologic defect of an organ, part of an organ, or a larger region of the body that results from the extrinsic breakdown of, or an interference with, an originally normal developmental process. C2849 Congenital Malformation C90259 NICHD Terminology C114963 Childhood Fibrillary Astrocytoma Childhood Fibrillary Astrocytoma A fibrillary astrocytoma that occurs during childhood. A fibrillary astrocytoma that occurs during childhood. C114967 Childhood Diffuse Astrocytoma C90259 NICHD Terminology C114964 Childhood Gemistocytic Astrocytoma Childhood Gemistocytic Astrocytoma A gemistocytic astrocytoma that occurs during childhood. A gemistocytic astrocytoma that occurs during childhood. C114967 Childhood Diffuse Astrocytoma C90259 NICHD Terminology C114966 Childhood Giant Cell Glioblastoma Childhood Giant Cell Glioblastoma A giant cell glioblastoma that occurs during childhood. A giant cell glioblastoma that occurs during childhood. C5136 Childhood Glioblastoma C90259 NICHD Terminology C114967 Childhood Diffuse Astrocytoma Childhood Diffuse Astrocytoma A diffuse astrocytoma that occurs during childhood. A diffuse astrocytoma that occurs during childhood. C124275 Childhood Astrocytoma C90259 NICHD Terminology C114968 Childhood Gliosarcoma Childhood Gliosarcoma A gliosarcoma that occurs during childhood. A gliosarcoma that occurs during childhood. C5136 Childhood Glioblastoma C90259 NICHD Terminology C114969 Childhood Gliomatosis Cerebri Childhood Gliomatosis Cerebri Gliomatosis cerebri that occurs during childhood. Gliomatosis cerebri that occurs during childhood. C7703 Childhood Brain Neoplasm C90259 NICHD Terminology C114970 Childhood Pilomyxoid Astrocytoma Childhood Pilomyxoid Astrocytoma A pilomyxoid astrocytoma that occurs during childhood. A pilomyxoid astrocytoma that occurs during childhood. C124275 Childhood Astrocytoma C90259 NICHD Terminology C114971 Childhood Pleomorphic Xanthoastrocytoma Childhood Pleomorphic Xanthoastrocytoma A pleomorphic xanthoastrocytoma that occurs during childhood. A pleomorphic xanthoastrocytoma that occurs during childhood. C124275 Childhood Astrocytoma C90259 NICHD Terminology C114972 Childhood Protoplasmic Astrocytoma Childhood Protoplasmic Astrocytoma A protoplasmic astrocytoma that occurs during childhood. A protoplasmic astrocytoma that occurs during childhood. C114967 Childhood Diffuse Astrocytoma C90259 NICHD Terminology C114973 Childhood Anaplastic Oligoastrocytoma Childhood Anaplastic Oligoastrocytoma An anaplastic oligoastrocytoma that occurs during childhood. An anaplastic oligoastrocytoma that occurs during childhood. C5448 Malignant Childhood Central Nervous System Neoplasm C115195 Childhood Mixed Glioma C90259 NICHD Terminology C114974 Childhood Oligoastrocytoma Childhood Oligoastrocytoma An oligoastrocytoma that occurs during childhood. An oligoastrocytoma that occurs during childhood. C115195 Childhood Mixed Glioma C90259 NICHD Terminology C115149 Adenovirus Infection Adenovirus Infection An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis. An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis. C3439 Viral Infection C90259 NICHD Terminology C115152 Vascular Stenosis Vascular Stenosis Narrowing of the lumen of an artery or vein. Narrowing of the lumen of an artery or vein. C35552 Cardiovascular System Finding C90259 NICHD Terminology C115158 Nephrogenic Systemic Fibrosis Nephrogenic Systemic Fibrosis Fibrosis of the skin, joints and other organs usually associated with gadolinium exposure in the setting of kidney failure. Fibrosis of the skin, joints and other organs usually associated with gadolinium exposure in the setting of kidney failure. C9229 Systemic Disorder C90259 NICHD Terminology C115160 Blastic Phase Blast Crisis Blast Phase || Blastic Phase Sudden increase of the number of blasts in the bone marrow and/or peripheral blood in a patient with a history of chronic leukemia. Sudden increase of the number of blasts in the bone marrow and/or peripheral blood in a patient with a history of chronic myelogenous leukemia. C36289 Hematopoietic System Finding C90259 NICHD Terminology C115161 Dislodged Peritoneal Dialysis Catheter Dislodged Peritoneal Dialysis Catheter Malposition of a peritoneal dialysis catheter. Malposition of a peritoneal dialysis catheter. C116081 Dialysis Access Complication C90259 NICHD Terminology C115162 Displaced Peritoneal Dialysis Catheter Displaced Peritoneal Dialysis Catheter Malposition and dysfunction of a peritoneal dialysis catheter. Malposition and dysfunction of a peritoneal dialysis catheter. C116081 Dialysis Access Complication C90259 NICHD Terminology C115163 Community-Acquired Pneumonia Community-acquired Pneumonia Pneumonia that is not acquired in a hospital or long-term care facility setting. Pneumonia that is not acquired in a hospital or long-term care facility setting. C3333 Pneumonia C90259 NICHD Terminology C115164 Nosocomial Infection Nosocomial Infection HAI || Healthcare-Associated Infection || Hospital-Acquired Infection || Hospital-Onset Infection An infection acquired in a hospital or other healthcare setting. An infection acquired in a hospital or other healthcare setting. C26726 Infectious Disorder C90259 NICHD Terminology C115165 Sialitis Sialitis Sialadenitis Inflammation of the salivary glands. Inflammation of the salivary glands. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C115168 Spontaneous Bladder Rupture Spontaneous Bladder Perforation Rupture in the bladder wall due to a pathologic process, in the absence of trauma. Rupture in the bladder wall due to a pathologic process, in the absence of trauma. C36286 Urinary System Finding C90259 NICHD Terminology C115192 Childhood Ependymal Tumor Childhood Ependymal Tumor An ependymal tumor that occurs during childhood. An ependymal tumor that occurs during childhood. C5132 Childhood Central Nervous System Neoplasm C90259 NICHD Terminology C115195 Childhood Mixed Glioma Childhood Mixed Glioma A mixed glioma that occurs during childhood. A mixed glioma that occurs during childhood. C5132 Childhood Central Nervous System Neoplasm C90259 NICHD Terminology C115196 Childhood Pineal Parenchymal Cell Neoplasm Childhood Pineal Parenchymal Cell Neoplasm Childhood Pineocytic Neoplasm || Childhood Pineocytic Tumor A pineal parenchymal cell neoplasm that occurs during childhood. A pineal parenchymal cell neoplasm that occurs during childhood. C35876 Childhood Intracranial Neoplasm C90259 NICHD Terminology C115203 Childhood Embryonal Tumor with Multilayered Rosettes, C19MC-Altered Childhood Ependymoblastoma An embryonal tumor with multilayered rosettes, C19MC-altered that occurs during childhood. An ependymoblastoma that occurs during childhood. C5961 Childhood Central Nervous System Primitive Neuroectodermal Tumor C90259 NICHD Terminology C115221 Bleeding Diathesis Bleeding Disorder Bleeding Diathesis A coagulation disorder characterized by a tendency for excessive bleeding. A coagulation disorder characterized by a tendency for excessive bleeding. C2902 Coagulation Disorder C90259 NICHD Terminology C115248 Methicillin-Resistant Staphylococcus Aureus Infection Methicillin-Resistant Staphylococcus aureus Infection A bacterial infection that is caused by Staphylococcus aureus and is resistant to methicillin treatment. A bacterial infection that is caused by Staphylococcus aureus and is resistant to methicillin treatment. C2890 Bacterial Infection C90259 NICHD Terminology C115292 Non-Metastatic Childhood Soft Tissue Sarcoma Non-Metastatic Childhood Soft Tissue Sarcoma Soft tissue sarcoma that occurs during childhood and is confined to the site in which it initially manifested. A soft tissue sarcoma that occurs during childhood, and has not spread beyond its original site of growth. C7715 Childhood Soft Tissue Sarcoma C90259 NICHD Terminology C115326 Pearson Syndrome Pearson Syndrome Pearson Marrow-Pancreas Syndrome The most severe syndrome in the spectrum of single, large-scale mitochondrial DNA (mtDNA) deletions (SLSMDs), usually presenting shortly after birth with sideroblastic anemia. The condition is often associated with exocrine pancreas insufficiency and multi-system dysfunction including diabetes mellitus, cortisol deficiency, hypothyroidism, hypoparathyroidism, and growth hormone deficiency. Commonly associated clinical findings include the following: failure to thrive, hypotonia, ptosis, ophthalmoparesis, and renal disease. The most severe syndrome in the spectrum of single, large-scale mitochondrial DNA (mtDNA) deletions (SLSMDs), usually presenting shortly after birth with sideroblastic anemia. The condition is often associated with exocrine pancreas insufficiency and multi-system dysfunction including diabetes mellitus, cortisol deficiency, hypothyroidism, hypoparathyroidism, and growth hormone deficiency. Commonly associated clinical findings include the following: failure to thrive, hypotonia, ptosis, ophthalmoparesis, and renal disease. C28193 Syndrome C90259 NICHD Terminology C115786 Perinephric Hematoma Perinephric Hematoma A collection of blood around the kidney. A collection of blood around the kidney. C50579 Hematoma C90259 NICHD Terminology C115787 Vascular Access Steal Syndrome Steal Syndrome Shunting of blood flow from the arterial to the venous side of a hemodialysis access. Shunting of blood flow from the arterial to the venous side of a hemodialysis access. C116081 Dialysis Access Complication C90259 NICHD Terminology C115788 Subcapsular Renal Hematoma Subcapsular Hematoma A collection of blood between the renal capsule and the renal parenchyma. A collection of blood between the renal capsule and the renal parenchyma. C50579 Hematoma C90259 NICHD Terminology C115958 Ureteral Stenosis Ureteral Stenosis Narrowing of the luminal diameter of one or both ureters due to intrinsic factors. An intrinsic narrowing of the lumen of the ureter. C36286 Urinary System Finding C90259 NICHD Terminology C115965 Mucositis Mucositis Inflammation of the mucous membranes. Inflammation of the mucous membranes. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C115967 Gangrenous Umbilical Hernia Gangrenous Umbilical Hernia A protrusion of necrotic tissue through the abdominal wall under the skin near the umbilicus. A protrusion of necrotic tissue through the abdominal wall under the skin near the umbilicus. C34685 Hernia C90259 NICHD Terminology C115988 Neonatal Herpes Simplex Infection Neonatal Herpes Simplex Infection Infection in the first month of life caused by the Herpes simplex virus. Infection in the first month of life caused by the Herpes simplex virus. C99231 Neonatal Infectious Disorder C90259 NICHD Terminology C115992 Periorbital Cellulitis Preseptal Cellulitis Periorbital Cellulitis An acute infection of the anterior portion of the eyelid and surrounding tissues. An infection of the eyelid and surrounding tissues, anterior to the orbital septum. C26715 Cellulitis C90259 NICHD Terminology C115993 Retinitis Retinitis Inflammation of the retina. Inflammation of the retina. C26875 Retinal Disorder C90259 NICHD Terminology C116003 Streptococcal Pharyngitis Streptococcal Pharyngitis Strep Throat Inflammation of the throat due to Streptococcus pyogenes. Inflammation of the throat due to Streptococcus pyogenes. C2890 Bacterial Infection C90259 NICHD Terminology C116006 Tonsillitis Tonsillitis Inflammation of the tonsillar tissue. Inflammation of the tonsillar tissue. C118420 Otolaryngologic Disorder C90259 NICHD Terminology C116007 Epiglottitis Epiglottitis Supraglottitis Inflammation of the epiglottis. Inflammation of the epiglottis. C26871 Respiratory System Disorder C90259 NICHD Terminology C116008 Omphalitis Omphalitis Inflammation of the umbilical cord stump in newborns. Inflammation of the umbilical cord stump in newborns. C98996 Neonatal Disorder C90259 NICHD Terminology C116046 Central Sleep Apnea Central Sleep Apnea The periodic cessation of breathing while asleep that occurs secondary to the decreased responsiveness of the respiratory center of the brain to carbon dioxide, resulting in alternating cycles of apnea and hyperpnea. Cessation of air flow during sleep due to abnormal central nervous system control. C26884 Sleep Apnea C90259 NICHD Terminology C116081 Dialysis Access Complication Dialysis Access Complication Any issue that arises as a consequence of a problem with a patient's dialysis access. C2959 Complication C90259 NICHD Terminology C116310 Apparent Life Threatening Event Apparent Life Threatening Event ALTE An episode during which the patient, usually a child less than one year, experiences a combination of apnea, color change, alteration in muscle tone, choking or gagging. This event can be frightening to the observer. An episode in an infant that is frightening to the observer, and that is characterized by some combination of apnea (central or occasionally obstructive), color change, marked change in muscle tone, choking or gagging. (NIH, 1987) C89328 Pediatric Disorder C90259 NICHD Terminology C116312 Stertor Stertor The sound produced by tissue vibrations in the nasopharynx and pharynx secondary to partial obstruction of the upper airway. The sound produced by tissue vibrations in the nasopharynx and pharynx secondary to partial obstruction of the upper airway. C100104 Sign or Symptom C90259 NICHD Terminology C116313 Perinatal Depression Perinatal Depression Birth Depression A condition characterized by cardiorespiratory and neurological depression following birth. A condition characterized by cardiorespiratory and neurological depression following birth. C26871 Respiratory System Disorder C35095 Perinatal Disorder C90259 NICHD Terminology Birth Asphyxia || Fetal Asphyxia || Intrapartum Asphyxia || Perinatal Asphyxia C116314 Respiratory Depression Respiratory Depression A decrease in ventilation secondary to impaired signals from the central nervous system. A decrease in ventilation secondary to impaired signals from the central nervous system. C26871 Respiratory System Disorder C90259 NICHD Terminology C116315 Snoring Snoring A harsh inspiratory sound during sleep. A harsh inspiratory sound during sleep. C100104 Sign or Symptom C90259 NICHD Terminology C116323 Postpartum Complication Postpartum Complication Any adverse event that arises in the six week period immediately following the delivery of a fetus. C2959 Complication C90259 NICHD Terminology C116333 Oculo-Respiratory Syndrome Oculo-respiratory-syndrome A transient condition that can occur following influenza vaccination that is characterized by bilateral conjunctivitis, facial edema, and upper respiratory symptoms. A transient condition that can occur following influenza vaccination that is characterized by bilateral conjunctivitis, facial edema, and upper respiratory symptoms. C26871 Respiratory System Disorder C90259 NICHD Terminology C116334 Pulmonary Alveolar Hemorrhage Pulmonary Alveolar Hemorrhage Bleeding in the alveoli. Bleeding in the alveoli. C26871 Respiratory System Disorder C90259 NICHD Terminology C116335 Central Apnea Central Apnea Cessation of air flow due to abnormal central nervous system control. Cessation of air flow due to abnormal central nervous system control. C26698 Apnea C90259 NICHD Terminology C116337 Obstructive Sleep Apnea Obstructive Sleep Apnea Obstructive Apnea Cessation of air flow during sleep due to upper airway obstruction. Cessation of air flow during sleep due to upper airway obstruction. C26884 Sleep Apnea C90259 NICHD Terminology C116338 Hydrothorax Hydrothorax The accumulation of serous fluid within the pleural cavity. The accumulation of serous fluid within the pleural cavity. C45233 Respiratory System Finding C90259 NICHD Terminology C116339 Hypophonia Hypophonia The inability to produce speech sounds at normal volume. The inability to produce speech sounds at normal volume. C100104 Sign or Symptom C90259 NICHD Terminology C116340 Brain Death Brain Death Irreversible absence of cortical and brain stem functioning. Irreversible absence of cortical and brain stem functioning. C28554 Death C90259 NICHD Terminology C116343 Idiopathic Hypersomnia Primary Hypersomnia A disorder of central nervous system etiology characterized by excessive sleepiness during the daytime. Excessive daytime sleepiness with a central nervous system origin. C3376 Sleep Disorder C90259 NICHD Terminology C116345 Guillain-Barre Syndrome Guillain-Barre Syndrome A rapidly progressive autoimmune disorder of the peripheral nervous system characterized by limb paresthesias, areflexia, and generalized muscle weakness or paralysis that often begins in the legs and spreads to the arms, torso, and face. A progressive autoimmune disorder of the peripheral nervous system characterized by respiratory insufficiency, limb paresthesias, areflexia, and generalized muscle weakness or paralysis that often begins in the legs and spreads to the arms, torso, and face. C2889 Autoimmune Disease C90259 NICHD Terminology C116347 Non-Communicating Hydrocephalus Non-Communicating Hydrocephalus Obstructive Hydrocephalus An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space. An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space. C3111 Hydrocephalus C90259 NICHD Terminology C116359 Secondary Raynaud Phenomenon Secondary Raynaud Phenomenon Raynaud Syndrome || Raynaud's Syndrome || Secondary Raynaud's Phenomenon Raynaud phenomenon associated with an underlying autoimmune disorder. Raynaud phenomenon associated with an underlying autoimmune disorder. C50724 Raynaud Phenomenon C90259 NICHD Terminology Secondary Raynaud Disease || Secondary Raynaud's Disease C116360 Primary Raynaud Phenomenon Primary Raynaud Phenomenon Primary Raynaud's Phenomenon Raynaud phenomenon without a known underlying autoimmune disorder. Raynaud phenomenon without a known underlying autoimmune disorder. C50724 Raynaud Phenomenon C90259 NICHD Terminology Primary Raynaud Disease || Primary Raynaud's Disease C116361 Behavioral Insomnia of Childhood Behavioral Insomnia of Childhood A childhood disorder characterized by difficulty initiating and maintaining sleep due to negative sleep associations, refusal to go to bed, and/or repeated attempts to delay bedtime. A childhood disorder characterized by difficulty initiating and maintaining sleep due to negative sleep associations, refusal to go to bed, and/or repeated attempts to delay bedtime. C28286 Insomnia C90259 NICHD Terminology C116362 Alice in Wonderland Syndrome Alice in Wonderland Syndrome A neurological syndrome characterized by distorted perceptions of shape, loss of sense of time, and visual, auditory, and tactile hallucinations. A neurological syndrome characterized by distorted perceptions of shape, loss of sense of time, and visual, auditory, and tactile hallucinations. C2934 Central Nervous System Disorder C90259 NICHD Terminology C116363 Susac Syndrome Susac Syndrome An autoimmune microvascular disease that is characterized by the clinical triad of encephalopathy, branch retinal artery occlusions, and hearing loss. An autoimmune microvascular disease that is characterized by the clinical triad of encephalopathy, branch retinal artery occlusions, and hearing loss. C2889 Autoimmune Disease C90259 NICHD Terminology C116364 Auditory Neuropathy Spectrum Disorder Auditory Neuropathy Spectrum Disorder ANSD || Auditory Dys-synchrony || Auditory Neuropathy A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception. A group of hearing disorders characterized by impaired transmission of signal through the auditory nerve with abnormal or absent auditory brainstem response with hearing loss and poor speech perception. C63711 Sensory Disorder C90259 NICHD Terminology C116365 Functional Hearing Loss Functional Hearing Loss Hearing loss in the absence of auditory system pathology. Hearing loss in the absence of auditory system pathology. C35731 Hearing Loss C90259 NICHD Terminology C116366 Hyperacusis Hyperacusis A disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds. Abnormally increased perception of sound. C63711 Sensory Disorder C90259 NICHD Terminology C116367 Presbycusis Presbycusis Bilateral hearing loss caused by progressive degeneration of cochlear structures and central auditory pathways, typically associated with the aging process. Bilateral hearing loss caused by progressive degeneration of cochlear structures and central auditory pathways, typically associated with the aging process. C35731 Hearing Loss C90259 NICHD Terminology C116368 Hyposmia Hyposmia Decreased ability to smell. Decreased ability to smell. C28246 Dysesthesia C90259 NICHD Terminology C116369 Anosmia Anosmia Inability to smell. Inability to smell. C28246 Dysesthesia C90259 NICHD Terminology C116370 Dysosmia Dysosmia Abnormal sense of smell. Abnormal sense of smell. C28246 Dysesthesia C90259 NICHD Terminology C116371 Cacosmia Cacosmia A hallucination of an unpleasant odor. A hallucination of an unpleasant odor. C28246 Dysesthesia C90259 NICHD Terminology C116372 Phantosmia Phantosmia Detection of odors that are not present. Detection of odors that are not present. C28246 Dysesthesia C90259 NICHD Terminology C116373 Hypogeusia Hypogeusia Decreased ability to taste. Decreased ability to taste. C28246 Dysesthesia C90259 NICHD Terminology C116374 Ageusia Ageusia Inability to taste. Inability to taste. C28246 Dysesthesia C90259 NICHD Terminology C116375 Phantogeusia Phantom Taste Perception A lingering, usually unpleasant, taste without the associated stimulus. A lingering, usually unpleasant, taste without the associated stimulus. C28246 Dysesthesia C90259 NICHD Terminology C116376 Hyperesthesia Hyperesthesia Increased sensitivity to tactile stimulation. Increased sensitivity to tactile stimulation. C28246 Dysesthesia C90259 NICHD Terminology C116378 Posterior Fossa Syndrome Posterior Fossa Syndrome A postoperative syndrome, usually presenting after midline posterior fossa tumor resection, that involves a variety of signs and symptoms including aphasia, mutism or speech disturbances, dysphagia, mobility problems, cranial nerve palsies and emotional instability. A postoperative syndrome, usually presenting after midline posterior fossa tumor resection, that involves a variety of signs and symptoms including aphasia, mutism or speech disturbances, dysphagia, mobility problems, cranial nerve palsies and emotional instability. C2959 Complication C90259 NICHD Terminology C116379 Cerebellar Mutism Cerebellar Mutism A syndrome, usually presenting after midline posterior fossa tumor resection, which is characterized by abnormalities of speech, behavioral or affective disturbances, and diffuse cerebellar dysfunction. A syndrome, usually presenting after midline posterior fossa tumor resection, which is characterized by abnormalities of speech, behavioral or affective disturbances, and diffuse cerebellar dysfunction. C2934 Central Nervous System Disorder C90259 NICHD Terminology C116380 Chronic Infantile Neurological Cutaneous and Articular Syndrome Neonatal-Onset Multisystem Inflammatory Disease CINCA || Chronic Infantile Neurological Cutaneous and Articular Syndrome || NOMID A congenital autoinflammatory disorder that presents within a few days of birth and is characterized by a clinical triad of skin rash, chronic meningitis, and joint pain with recurrent fever and inflammation. An autoinflammatory disease caused by mutations in the NLRP3 gene which encodes cryopyrin. It typically presents during infancy and is characterized by fever, urticarial skin rash, aseptic meningitis, and widened epiphyses. C3101 Genetic Disorder C2889 Autoimmune Disease C90259 NICHD Terminology C116381 Neuritis Neuritis Inflammation of a nerve. Inflammation of the nerve. C27580 Peripheral Nervous System Disorder C90259 NICHD Terminology C116382 External Hydrocephalus External Hydrocephalus Abnormal increase of cerebrospinal fluid in the subdural space of the brain. Abnormal increase of cerebrospinal fluid in the subdural space of the brain. C3111 Hydrocephalus C90259 NICHD Terminology C116383 Post-Hemorrhagic Hydrocephalus Post-Hemorrhagic Hydrocephalus An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a later sequela of an intraventricular or subarachnoid hemorrhage. An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a later sequela of an intraventricular or subarachnoid hemorrhage. C3111 Hydrocephalus C90259 NICHD Terminology C116384 Post-Inflammatory Hydrocephalus Post-Inflammatory Hydrocephalus An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of a central nervous system inflammation. An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of central nervous system infection and/or inflammation. C3111 Hydrocephalus C90259 NICHD Terminology C116471 Reduced-Intensity Transplant Conditioning Procedure Non-Myeloablative Conditioning Reduced Intensity Conditioning A method of preparation for stem cell transplant that uses less than standard doses of chemotherapy and radiation prior to the transfer of stem cells, with the goal of providing protection against graft vs. host disease, while simultaneously minimizing the toxic effects of the conditioning treatment. A conditioning regimen intended to produce enough immunosuppression without eradicating host hematopoietic stem cells to allow engraftment of allogeneic hematopoietic stem cells via transplantation. C49236 Therapeutic Procedure C90259 NICHD Terminology C116503 Febrile Seizure Febrile Seizure A seizure occurring in infants and young children that occurs in the setting of fever. A seizure occurring in infants and young children that occurs in the setting of fever. C2962 Seizure C90259 NICHD Terminology C116529 Infantile Spasm Infantile Spasms Seizures in the first years of life characterized by flexion and extension jerks of the neck, trunk, and extremities. Seizures in the first years of life characterized by flexion and extension jerks of the neck, trunk, and extremities. C2962 Seizure C90259 NICHD Terminology C116538 Benign Rolandic Epilepsy Benign Rolandic Epilepsy Benign Childhood Epilepsy With Centrotemporal Spikes A neurological disorder of childhood characterized by partial seizures consisting of twitching, numbness, or tingling of the face or tongue that often progress to secondary generalized seizures. A neurological disorder of childhood characterized by partial seizures consisting of twitching, numbness, or tingling of the face or tongue that often progress to secondary generalized seizures. C3020 Epilepsy C90259 NICHD Terminology C116548 Psychogenic Seizure Psychogenic Seizure Psychogenic Non-Epileptic Seizure Movements, behaviors and sensations similar to a seizure, but due to psychological distress instead of a neurological disorder. Paroxysmal movements, behaviors and sensations similar to a seizure, but due to psychological distress instead of a neurological disorder. C2962 Seizure C90259 NICHD Terminology C116552 Early Infantile Epileptic Encephalopathy with Burst-Suppression Early Infantile Epileptic Encephalopathy with Burst-Suppression EIEE with Burst-Suppression || Ohtahara Syndrome A neurological disorder characterized by recurring seizures presenting within the first three months of life, progressive cerebral dysfunction, and an EEG pattern of periods of low electrical brain activity interspersed with bursts of high spiky activity. A neurological disorder characterized by recurring seizures presenting within the first three months of life, progressive cerebral dysfunction, and an EEG pattern of periods of low electrical brain activity interspersed with bursts of high spiky activity. C26920 Encephalopathy C90259 NICHD Terminology C116573 Dravet Syndrome Dravet Syndrome Severe Myoclonic Epilepsy of Infancy A severe form of epilepsy that presents in early childhood and is characterized by frequent, prolonged febrile or myoclonic seizures that may progress to status epilepticus and poor development of language, motor, and socialization skills. A severe form of epilepsy that presents in early childhood and is characterized by frequent, prolonged febrile or myoclonic seizures that may progress to status epilepticus and poor development of language, motor, and socialization skills. C3020 Epilepsy C90259 NICHD Terminology C116574 Athetosis Athetosis Slow, involuntary, and nonpurposeful writhing movements that usually affect the upper limbs. A movement disorder consisting of slow, involuntary, and nonpurposeful writhing movements that usually affect the upper limbs. C110937 Musculoskeletal Finding C90259 NICHD Terminology C116575 Hyperkinesia Hyperkinesia Excessive movement. Excessive movement. C110937 Musculoskeletal Finding C90259 NICHD Terminology C116576 Hypokinesia Hypokinesia Diminished movement. Diminished movement. C110937 Musculoskeletal Finding C90259 NICHD Terminology C116583 Subarachnoid Hematoma Subarachnoid Hematoma A collection of blood into the space between the pia membrane and arachnoid membrane. A collection of blood into the space between the pia membrane and arachnoid membrane. C50579 Hematoma C90259 NICHD Terminology C116585 Subdural Hematoma Subdural Hematoma A collection of blood between the dura mater and the brain. A collection of blood into the space between the dura mater and the brain. C50579 Hematoma C90259 NICHD Terminology C116588 Epidural Hematoma Epidural Hematoma A collection of blood into the space between the dura mater and the skull. A collection of blood into the space between the dura mater and the skull. C50579 Hematoma C90259 NICHD Terminology C116591 Subgaleal Hematoma Subgaleal Hematoma A collection of blood between the scalp and the skull periosteum. A collection of blood in the space between the scalp and the periosteum. C50579 Hematoma C90259 NICHD Terminology C116593 Early Myoclonic Encephalopathy Early Myoclonic Encephalopathy A neurologic disorder characterized by frequently recurring myoclonic seizures and other seizure types presenting within the first months of life. A neurological disorder characterized by recurring seizures presenting within the first months of life, characterized by frequently recurring myoclonic seizures and other seizure types. C26920 Encephalopathy C90259 NICHD Terminology C116599 Diplegia Diplegia Paralysis affecting corresponding parts on both sides of the body. Paralysis affecting corresponding parts on both sides of the body. C26835 Nervous System Disorder C90259 NICHD Terminology C116600 Motor Deficit Motor Deficits Loss of movement function. Movement impairment. C110937 Musculoskeletal Finding C90259 NICHD Terminology C116601 Gross Motor Delay Gross Motor Delay Abnormally late development of the coordination of the muscles, bones, and/or nerves that produces whole body and large muscle group movements. Failure to meet, or late achievement of motor milestones pertaining to large muscles that control fundamental movement patterns, including locomotion, body manipulation and object control. C116943 Motor Developmental Delay C90259 NICHD Terminology C116602 Fine Motor Delay Fine Motor Delay Delayed acquisition of age appropriate motor milestones that produce small and precise movements. Failure to meet, or late achievement of milestones pertaining to small and precise movements. C89330 Developmental Disorder C90259 NICHD Terminology C116707 Bradykinesia Bradykinesia Slow movement. Slow movement. C110937 Musculoskeletal Finding C90259 NICHD Terminology C116708 Floppy Infant Floppy Infant Congenital Floppy Infant || Floppy Infant Syndrome || Infantile Hypotonia A syndrome of generalized poor muscle tone and muscle weakness presenting in a newborn infant. A condition characterized by poor muscle tone affecting the craniofacial musculature, trunk and limbs that is due to central or peripheral nervous system abnormalities, myopathies, metabolic disorders, endocrine disorders, and acute or chronic illness, which is usually evident at birth or is identified during early life. C98996 Neonatal Disorder C90259 NICHD Terminology C116715 Venous Stroke Venous Stroke Cerebral Thrombotic Stroke || Cerebral Venous Stroke Ischemic or hemorrhagic stroke resulting from cerebral venous thrombosis. Ischemic or hemorrhagic stroke resulting from cerebral venous thrombosis. C3390 Cerebrovascular Accident C90259 NICHD Terminology C116718 Early Onset Primary Dystonia Early Onset Primary Dystonia Early Onset Torsion Dystonia || Oppenheim's Dystonia A genetic disorder that usually presents in early childhood and is characterized by muscle contractions in a foot, leg, or arm that gradually spreads to other body regions. A genetic disorder that usually presents in early childhood and is characterized by muscle contractions in a foot, leg, or arm that gradually spreads to other body regions. C26835 Nervous System Disorder C3101 Genetic Disorder C90259 NICHD Terminology C116721 Palsy Palsy Muscle weakness or paralysis of neurologic origin. Muscle weakness or paralysis of neurologic origin. C100104 Sign or Symptom C90259 NICHD Terminology C116723 Erb's Palsy Erb's Palsy Erb-Duchenne Palsy Weakness or paralysis of muscles in the arm due to damage in the upper brachial plexus. A condition characterized by reduced or absent movement of the ipsilateral shoulder or arm as a consequence of an injury to cervical roots 5, 6 and sometimes 7, also known as the upper brachial plexus. C103231 Brachial Plexus Injury C90259 NICHD Terminology C116724 Klumpke Palsy Klumpke's Palsy Dejerine-Klumpke Palsy Weakness or paralysis of muscles in the forearm or hand due to damage of the lower brachial plexus. A condition characterized by reduced or absent movement of the ipsilateral hand as a consequence of an injury to cervical root 8 and thoracic root 1, also known as the lower brachial plexus. C103231 Brachial Plexus Injury C90259 NICHD Terminology C116725 Psychogenic Tremor Psychogenic Tremor Paroxysmal movements, behaviors and sensations similar to a tremor but due to psychological distress instead of a neurological disorder. Paroxysmal movements, behaviors and sensations similar to a tremor but due to psychological distress instead of a neurological disorder. C38038 Tremor C90259 NICHD Terminology C116730 Choreoathetosis Choreoathetosis Abnormal movement characterized by involuntary jerking and writhing affecting the limbs, trunk, and facial muscles. A movement disorder affecting the limbs, trunk, and facial muscles that is characterized by involuntary jerking and writhing. C110937 Musculoskeletal Finding C90259 NICHD Terminology C116731 Stereotypy Stereotypy Persistent repetition of non-purposeful speech or movement. Persistent repetition of non-purposeful speech or movement. C100104 Sign or Symptom C90259 NICHD Terminology C116757 Movement Disorder Movement Disorders Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement. Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement. C2934 Central Nervous System Disorder C90259 NICHD Terminology C116758 Tic Tic Involuntary sudden, rapid, recurrent, nonrhythmic, stereotyped motor movement or vocalization. Involuntary sudden, rapid, recurrent, nonrhythmic, stereotyped motor movement or vocalization. C100104 Sign or Symptom C90259 NICHD Terminology C116759 Motor Tic Motor Tic A tic affecting muscle movement. A tic affecting muscle movement. C116758 Tic C90259 NICHD Terminology C116760 Phonic Tic Phonic Tic Vocal Tic A vocal tic. A vocal tic. C116758 Tic C90259 NICHD Terminology C116761 Simple Tic Simple Tic A tic that involves one muscle or muscle group, or non-word sounds. A tic that involves one muscle or muscle group, or non-word sounds. C116758 Tic C90259 NICHD Terminology C116762 Complex Tic Complex Tic A tic that involves multiple muscles or muscle groups, or words or sentences. A tic that involves multiple muscles or muscle groups, or words or sentences. C116758 Tic C90259 NICHD Terminology C116763 Corprolalia Coprolalia Involuntary and repetitive utterances of obscene or socially inappropriate words or statements. Involuntarily and repetitive utterances of obscene or socially inappropriate words or statements. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C116766 Tourettism Tourettism Tics that are secondary to an identifiable cause. Tics that are secondary to an identifiable cause. C116757 Movement Disorders C90259 NICHD Terminology C116767 Transient Tic Disorder Transient Tic Disorder Benign Tic Disorder of Childhood A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause. A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause. C116757 Movement Disorders C90259 NICHD Terminology C116768 Chronic Tic Disorder Chronic Tic Disorder A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause. A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause. C116757 Movement Disorders C90259 NICHD Terminology C116769 Congenital Dysplasia Congenital Dysplasia Abnormal tissue formation due to abnormal cellular organization, which may result in a morphologic defect. Abnormal tissue formation due to abnormal cellular organization, which may result in a morphologic defect. C2849 Congenital Malformation C90259 NICHD Terminology C116770 Retinopathy of Prematurity Stage 0 Retinopathy of Prematurity Stage 0 Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or immature. In Stage 0, there is no clear demarcation line between vascularized and non-vascularized retina. Prior to the development of ROP in the premature infant, vascularization of the retina is incomplete or immature. In Stage 0, there is no clear demarcation line between vascularized and non-vascularized retina. C34982 Retinopathy of Prematurity C90259 NICHD Terminology C116771 Transient Neonatal Pustular Melanosis Transient Neonatal Pustular Melanosis A benign, self-limited eruption of vesicles, pustules and macules seen in newborns. The fluid-filled lesions typically rupture and resolve within 48 hours while the macular lesions may persist for months. A benign, self-limited eruption of vesicles, pustules and macules seen in newborns. The fluid-filled lesions typically rupture and resolve within 48 hours while the macular lesions may persist for months. C98996 Neonatal Disorder C90259 NICHD Terminology C116772 Early Neonatal Death Early Neonatal Mortality Death of a live newborn during the first 7 days of life. Death of live-born infants less than 7 days of age. C80082 Neonatal Death C90259 NICHD Terminology C116773 Late Neonatal Death Late Neonatal Mortality Death of live newborn between 7and 27 days after birth. Death of live-born infants occurring at 7 to 27 days of age. C80082 Neonatal Death C90259 NICHD Terminology C116774 Anti-D Hemolytic Disease of the Newborn Anti-D Hemolytic Disease of the Newborn Isoimmunization of Newborn with Rhesus Anti-D Antibody A condition of the newborn characterized by the destruction of red blood cells initiated by the transmission of antibodies from a mother to the child via the placenta against the D antigen, the most common Rhesus factor. A condition of the newborn characterized by the destruction of red blood cells initiated by the transmission of antibodies from a mother to the child via the placenta against the D antigen, the most common Rhesus factor. C101304 Hemolytic Disease of the Newborn C90259 NICHD Terminology C116776 Undifferentiated Connective Tissue Disease Undifferentiated Connective Tissue Disease UCTD An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases. An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases. C2889 Autoimmune Disease C90259 NICHD Terminology C116778 Spondyloarthritis Spondyloarthritis Spondyloarthropathy A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis. A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis. C2883 Arthritis C90259 NICHD Terminology Seronegative Spondyloarthropathy C116779 Spondylitis Spondylitis The inflammation of a vertebra. Inflammation of a vertebra. C2883 Arthritis C90259 NICHD Terminology C116780 Linear Scleroderma Linear Scleroderma A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area. A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area. C26746 Scleroderma C90259 NICHD Terminology C116781 Scleroderma en Coup de Sabre Scleroderma en Coup de Sabre Frontal Linear Scleroderma A type of linear scleroderma characterized by a linear, colorless, atrophied band across the forehead or scalp. This disorder can affect the tissues under or near the lesion including brain, bone and eyes. A type of linear scleroderma characterized by a linear, colorless, atrophied band across the forehead or scalp. This disorder can affect the tissues under or near the lesion including brain, bone and eyes. C116780 Linear Scleroderma C90259 NICHD Terminology C116782 Generalized Morphea Generalized Morphea A type of morphea characterized by four or more plaques found in two or more anatomic locations. The plaques are indurated, generally well-delineated, and may include muscle atrophy in affected areas; there is no visceral involvement. A type of morphea characterized by four or more plaques found in two or more anatomic locations. The plaques are indurated, generally well-delineated, and may include muscle atrophy in affected areas; there is no visceral involvement. C26746 Scleroderma C90259 NICHD Terminology C116783 Erythema Toxicum Neonatorum Erythema Toxicum Neonatorum Neonatal Erythema Toxicum || Neonatal Toxic Erythema A benign, self-limited eruption of vesicles, pustules, papules and macules seen in newborns. An eosinophilic infiltrate can be isolated suggesting an immune-mediated reaction in the skin. A common, benign, non-painful rash, characterized by blotchy erythema with crops of evanescent small white or yellow papules or pustules, that usually occurs between days 2-5 after birth and typically resolves within the first two weeks of life. C3371 Skin Disorder C98996 Neonatal Disorder C90259 NICHD Terminology C116784 Circumscribed Morphea Circumscribed Morphea A type of morphea in which the lesions are circular or ovoid, and may be superficial or deep. The superficial lesions can have an indurated, waxy, ivory colored center with surrounding erythema or violaceous color during the active stage. Deep lesions can be sclerotic and depressed from underlying atrophy, and may show minimal skin color changes. When there are several (greater than or equal to 4), larger (greater than 3cm) lesions on two or more body areas this is classified as "generalized morphea". A type of morphea in which the lesions are circular or ovoid, and may be superficial or deep. The superficial lesions can have an indurated, waxy, ivory colored center with surrounding erythema or violaceous color during the active stage. Deep lesions can be sclerotic and depressed from underlying atrophy, and may show minimal skin color changes. When there are several (greater than or equal to 4), larger (greater than 3 cm) lesions on two or more body areas this is classified as "generalized morphea". C72069 Localized Scleroderma C90259 NICHD Terminology C116785 Pansclerotic Morphea Pansclerotic Morphea A rare, aggressive form of morphea characterized by sclerosis of the dermis, fascia, and muscle over large parts of the body, resulting in contractures and immobility. A rare, aggressive form of morphea characterized by sclerosis of the dermis, fascia, and muscle over large parts of the body, resulting in contractures and immobility. C72069 Localized Scleroderma C90259 NICHD Terminology C116786 Mixed Morphea Mixed Morphea The presence of more than one variant of morphea in a single patient. The presence of more than one variant of morphea in a single patient. C72069 Localized Scleroderma C90259 NICHD Terminology C116787 Juvenile Localized Scleroderma Juvenile Localized Scleroderma Localized scleroderma presenting before the age of eighteen. Localized scleroderma presenting before the age of eighteen. C72069 Localized Scleroderma C90259 NICHD Terminology C116789 Systemic Sclerosis without Skin Involvement Systemic Sclerosis without Skin Involvement SSC without Skin Involvement || Systemic Sclerosis sine Scleroderma A condition in which there are visceral manifestations of systemic sclerosis without any cutaneous findings. A condition in which there are visceral manifestations of systemic sclerosis without any cutaneous findings. C72070 Systemic Sclerosis C90259 NICHD Terminology C116791 Diffuse Cutaneous Systemic Sclerosis Diffuse Cutaneous Systemic Sclerosis dSSc || dcSSc A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement. A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement. C72070 Systemic Sclerosis C90259 NICHD Terminology C116793 Group B Streptococcal Infection, Early-Onset Group B Streptococcal Infection, Early-Onset GBS Infection, Early-Onset Infection of an infant from birth to less than seven days of life caused by Group B Streptococcus (Streptococcus agalactiae) from a colonized mother. Infection of an infant from birth to less than seven days of life caused by Group B Streptococcus (Streptococcus agalactiae) from a colonized mother. C87168 Group B Streptococcal Infection C90259 NICHD Terminology C116794 Blau Syndrome Blau Syndrome Pediatric Granulomatous Arthritis An autoinflammatory disease caused by a NOD2 gene mutation, usually presenting in children younger than age four, and characterized by granulomatous dermatitis, arthritis with synovitis, and uveitis. An autoinflammatory disease caused by a NOD2 gene mutation, usually presenting in children younger than age four, and characterized by granulomatous dermatitis, arthritis with synovitis, and uveitis. C3101 Genetic Disorder C2889 Autoimmune Disease C90259 NICHD Terminology C116795 Group B Streptococcal Infection, Late-Onset Group B Streptococcal Infection, Late-Onset GBS Infection, Late-Onset Infection of an infant from seven days to three months of life caused by Group B Streptococcus (Streptococcus agalactiae). Infection of an infant from seven days to three months of life caused by Group B Streptococcus (Streptococcus agalactiae). C87168 Group B Streptococcal Infection C90259 NICHD Terminology C116796 Idiopathic Inflammatory Myopathy Idiopathic Inflammatory Myopathy IIM || Idiopathic Inflammatory Myopathies An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies. An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of IIM are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies. C101216 Myopathy C90259 NICHD Terminology C116797 Juvenile Dermatomyositis Sine Myositis Juvenile Dermatomyositis sine Myositis Juvenile Amyopathic Dermatomyositis A rare form of juvenile dermatomyositis that manifests with characteristic cutaneous findings for at least six months in the absence of any detectable muscle involvement. A rare form of juvenile dermatomyositis that manifests with characteristic cutaneous findings for at least six months in the absence of any detectable muscle involvement. C27576 Juvenile Dermatomyositis C90259 NICHD Terminology C116798 Childhood-Onset Systemic Lupus Erythematosus Childhood-Onset Systemic Lupus Erythematosus CSLE || JSLE || Juvenile SLE || PSLE || Pediatric SLE Systemic lupus erythematosus (SLE) diagnosed in individuals under the age of eighteen. Children frequently have multi-organ involvement and acute disease onset. Symptoms include fever, arthritis, skin lesions, anemia, and fatigue. Systemic Lupus Erythematosus (SLE) diagnosed in individuals under the age of 18. Children frequently have multi-organ involvement and acute disease onset. C3201 Systemic Lupus Erythematosus C90259 NICHD Terminology C116799 Congenital Varicella Zoster Infection Congenital Varicella Zoster Infection An infection, characterized by the rash of chickenpox or shingles, that is caused by the varicella-zoster virus transmitted directly from the mother to the fetus or neonate during late pregnancy or childbirth. An infection, characterized by the rash of chickenpox or shingles, that is caused by the varicella-zoster virus transmitted directly from the mother to the fetus or neonate during late pregnancy or childbirth. C99231 Neonatal Infectious Disorder C90259 NICHD Terminology C116800 Congenital Varicella Syndrome Congenital Varicella Syndrome A condition, whose clinical manifestations include intrauterine growth restriction, scarring cicatricial lesion of the limbs, abnormalities of the limbs, microcephaly, chorioretinitis, microphthalmia, cataracts, cortical atrophy, seizures, and evidence of damage to the autonomic nervous system, that is caused by fetal exposure to the varicella zoster virus during the first trimester of pregnancy. A condition, whose clinical manifestations include intrauterine growth restriction, scarring cicatricial lesion of the limbs, abnormalities of the limbs, microcephaly, chorioretinitis, microphthalmia, cataracts, cortical atrophy, seizures, and evidence of damage to the autonomic nervous system, that is caused by fetal exposure to the varicella zoster virus during early pregnancy. C98996 Neonatal Disorder C90259 NICHD Terminology C116801 Overlap Syndrome Overlap Syndrome An autoimmune, connective tissue disorder in which the patient exhibits features from two or more diseases. These typically include systemic sclerosis, dermatomyositis, polymyositis, rheumatoid arthritis, systemic lupus erythematosus, and Sjogren syndrome; in pediatrics the respective pediatric entities are encountered. An autoimmune, connective tissue disorder in which the patient exhibits features from two or more diseases. These typically include systemic sclerosis, dermatomyositis, polymyositis, rheumatoid arthritis, systemic lupus erythematosus, and Sjogren syndrome; in pediatrics the respective pediatric entities are encountered. C2889 Autoimmune Disease C90259 NICHD Terminology C116802 Neonatal Sepsis Neonatal Sepsis An infectious disorder of newborn infants that is characterized by a systemic inflammatory response most commonly caused by bacteria. An infectious disorder of newborn infants that is characterized by a systemic inflammatory response most commonly caused by bacteria. C99231 Neonatal Infectious Disorder C90259 NICHD Terminology C116803 Neonatal Sepsis, Early-Onset Neonatal Sepsis, Early-Onset An infectious disorder of newborn infants that is characterized by a systemic inflammatory response within 72 hours of life and is most commonly caused by bacteria. An infectious disorder of newborn infants that is characterized by a systemic inflammatory response within 72 hours of life and is most commonly caused by bacteria. C116802 Neonatal Sepsis C90259 NICHD Terminology C116805 Neonatal Sepsis, Late-Onset Neonatal Sepsis, Late-Onset An infectious disorder of newborn infants that is characterized by a systemic inflammatory response beyond 72 hours of life and is most commonly caused by bacteria. An infectious disorder of newborn infants most commonly caused by bacteria that is characterized by a systemic inflammatory response beyond 72 hours of life. C116802 Neonatal Sepsis C90259 NICHD Terminology C116806 Neonatal Listeriosis Neonatal Listeriosis A bacterial infection by Listeria monocytogenes in a newborn infant up to 28 days old. A bacterial infection by Listeria monocytogenes in a newborn infant up to 28 days old. C99231 Neonatal Infectious Disorder C90259 NICHD Terminology C116807 Congenital Listeriosis Congenital Listeriosis A bacterial infection by Listeria monocytogenes that is present at birth. A bacterial infection by Listeria monocytogenes that is present at birth. C99231 Neonatal Infectious Disorder C90259 NICHD Terminology C116808 Invasive Listeriosis Invasive Listeriosis A bacterial infection by Listeria monocytogenes in a sterile body compartment. A bacterial infection by Listeria monocytogenes in a sterile body compartment. C2890 Bacterial Infection C90259 NICHD Terminology C116809 Disseminated Listeriosis Disseminated Listeriosis A bacterial infection by Listeria monocytogenes in two or more non-contiguous sterile body compartments. A bacterial infection by Listeria monocytogenes in two or more non-contiguous sterile body compartments. C2890 Bacterial Infection C90259 NICHD Terminology C116810 Neonatal Candidiasis Neonatal Candidiasis A fungal infection by any of the Candida species in a newborn infant up to 28 days old. A fungal infection by any of the Candida species in a newborn infant up to 28 days old. C99231 Neonatal Infectious Disorder C90259 NICHD Terminology C116811 Congenital Candidiasis Congenital Candidiasis A fungal infection by any of the Candida species that is present at birth. A fungal infection by any of the Candida species that is present at birth. C99231 Neonatal Infectious Disorder C90259 NICHD Terminology C116812 Disseminated Candidiasis Disseminated Candidiasis A fungal infection by any of the Candida species in two or more non-contiguous sterile body compartments. A fungal infection by any of the Candida species in two or more non-contiguous sterile body compartments. C26726 Infectious Disorder C90259 NICHD Terminology C116813 Invasive Candidiasis Invasive Candidiasis A fungal infection by any of the Candida species in a sterile body compartment. A fungal infection by any of the Candida species in a sterile body compartment. C26726 Infectious Disorder C90259 NICHD Terminology C116814 Tetanus Neonatorum Neonatal Tetanus Tetanus Neonatorum A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production. A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production. C85185 Tetanus C99231 Neonatal Infectious Disorder C90259 NICHD Terminology C116815 Ophthalmia Neonatorum Neonatal Conjunctivitis Ophthalmia Neonatorum Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms. Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms. C34504 Conjunctivitis C90259 NICHD Terminology C116816 Gonococcal Ophthalmia Neonatorum Gonococcal Conjunctivitis Conjunctivitis Gonococcal Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery. Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery. C53656 Bacterial Conjunctivitis C99231 Neonatal Infectious Disorder C90259 NICHD Terminology C116817 Neonatal Chlamydia Conjunctivitis Chlamydial Conjunctivitis Inclusion Conjunctivitis || Trachoma Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery. Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery. C53656 Bacterial Conjunctivitis C99231 Neonatal Infectious Disorder C90259 NICHD Terminology C116818 Neonatal Chemical Conjunctivitis Chemical Conjunctivitis Inflammation of the conjunctiva in a newborn due to chemical irritation which was acquired postnatally from iatrogenic causes. Inflammation of the conjunctiva in a newborn due to chemical irritation which was acquired postnatally from iatrogenic causes. C34504 Conjunctivitis C98996 Neonatal Disorder C90259 NICHD Terminology C116819 Neonatal Dacryocystitis Neonatal Dacryocystitis Inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection. Inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection. C98996 Neonatal Disorder C90259 NICHD Terminology C116820 Forceps Injury Forceps Injury Birth injury sustained during a forceps-assisted delivery. Birth injury sustained during a forceps-assisted delivery. C101035 Birth Injury C90259 NICHD Terminology C116821 Vacuum Extraction Chignon Vacuum Extraction Chignon A cone-shaped swelling on the head produced by applying suction during vacuum-assisted delivery. It is temporary and usually resolves without treatment. A cone-shaped swelling on the head produced by applying suction during vacuum-assisted delivery. It is temporary and usually resolves without treatment. C81236 Birth Complication C90259 NICHD Terminology C116822 Fracture Related to Birth Fracture Related to Birth A broken bone sustained during the birthing process. A broken bone sustained during the birthing process. C3046 Fracture C101035 Birth Injury C90259 NICHD Terminology C116823 Occipital Diastasis Occipital Diastasis Occipital Osteodiastasis Birth trauma caused by excessive pressure to the suboccipital region of the skull resulting in separation of the occipital squama from the lateral or condylar parts of the occipital bone. It is a serious injury that may lead to subdural hemorrhage in the posterior fossa. A separation of the occipital squama from the lateral or condylar parts of the occipital bone. It may lead to a subdural hemorrhage in the posterior fossa. C101035 Birth Injury C90259 NICHD Terminology C116824 Fracture of Nose Related to Birth Fracture of Nose Related to Birth A broken nasal bone sustained during the birthing process. A broken nasal bone sustained during the birthing process. C116822 Fracture Related to Birth C90259 NICHD Terminology C116825 Fracture of Spine Related to Birth Fracture of Spine Related to Birth A broken vertebra sustained during the birthing process. A broken vertebra sustained during the birthing process. C116822 Fracture Related to Birth C90259 NICHD Terminology C116826 Fracture of Humerus Related to Birth Fracture of Humerus Related to Birth A broken humerus sustained during the birthing process. A broken humerus sustained during the birthing process. C116822 Fracture Related to Birth C90259 NICHD Terminology C116827 Fracture of Radius Related to Birth Fracture of Radius Related to Birth A broken radius sustained during the birthing process. A broken radius sustained during the birthing process. C116822 Fracture Related to Birth C90259 NICHD Terminology C116828 Fracture of Ulna Related to Birth Fracture of Ulna Related to Birth A broken ulna sustained during the birthing process. A broken ulna sustained during the birthing process. C116822 Fracture Related to Birth C90259 NICHD Terminology C116829 Fracture of Femur Related to Birth Fracture of Femur Related to Birth A broken femur sustained during the birthing process. A broken femur sustained during the birthing process. C116822 Fracture Related to Birth C90259 NICHD Terminology C116830 Omphalorrhexis Omphalorrhexis Rupture of the umbilical cord during labor and delivery. Rupture of the umbilical cord during labor and delivery. C36281 Integumentary System Finding C90259 NICHD Terminology C116831 Tentorial Tear Related to Birth Tentorial Tear Related to Birth Disruption of the tentorium cerebelli incurred during delivery. Disruption of the tentorium cerebelli incurred during delivery. C101035 Birth Injury C90259 NICHD Terminology C116839 Splenic Rupture Related to Birth Splenic Rupture Related to Birth Spleen Rupture Related to Birth Disruption of the spleen incurred during delivery. Disruption of the spleen incurred during delivery. C101035 Birth Injury C90259 NICHD Terminology C116842 Sternocleidomastoid Injury Related to Birth Sternocleidomastoid Injury Related to Birth Disruption of the sternocleidomastoid muscle incurred during delivery. Disruption of the sternocleidomastoid muscle incurred during delivery. C101035 Birth Injury C90259 NICHD Terminology C116895 Craniotabes Craniotabes Softening of the skull seen in newborns due to incomplete mineralization. Softening of the skull seen in newborns due to incomplete mineralization. C110937 Musculoskeletal Finding C90259 NICHD Terminology C116896 Cranial Suture Separation Cranial Suture Separation Cranial Sutures Widening A finding of increased space between the intersections of a newborn's cranial bones. A finding of increased space between the intersections of a newborn's cranial bones. C110937 Musculoskeletal Finding C90259 NICHD Terminology C116897 Fontanelle Bulging Fontanelle Bulging Bulging Fontanel || Fontanel Bulging Membranous areas between cranial bones in a newborn that appear elevated or full. Membranous areas between cranial bones in a newborn that appear elevated or full. C118807 Newborn or Infant Finding C90259 NICHD Terminology C116898 Fontanelle Depressed Fontanel Depressed Depressed Fontanel || Fontanelle Depressed Membranous areas between cranial bones in a newborn that appear depressed or sunken. Membranous areas between cranial bones in a newborn that appear depressed or sunken. C118807 Newborn or Infant Finding C90259 NICHD Terminology C116899 Congenital Cystic Hygroma Congenital Cystic Hygroma Cervicofacial Lymphatic Malformation A congenital lymphatic malformation usually arising from the neck and characterized by cystic dilation of the lymphatic vessels. A congenital lymphatic malformation usually arising from the neck and characterized by cystic dilation of the lymphatic vessels. C3724 Cystic Hygroma C90259 NICHD Terminology C116900 Phrenic Nerve Palsy Related to Birth Phrenic Nerve Palsy Related to Birth A condition characterized by reduced or absent movement of the ipsilateral diaphragm as a consequence of an injury to the phrenic nerve or its origin in cervical roots 3 through 5 sustained during the birthing process. A condition characterized by reduced or absent movement of the ipsilateral diaphragm as a consequence of an injury to the phrenic nerve or its origin in cervical roots 3 through 5 sustained during the birthing process. C101035 Birth Injury C90259 NICHD Terminology C116901 Facial Nerve Palsy Related to Birth Facial Nerve Palsy Related to Birth A condition characterized by reduced or absent movement of the ipsilateral face as a consequence of an injury to the seventh cranial nerve sustained during the birthing process. A condition characterized by reduced or absent movement of the ipsilateral face as a consequence of an injury to the seventh cranial nerve sustained during the birthing process. C26769 Facial Nerve Palsy C90259 NICHD Terminology C116902 Acquired Facial Nerve Palsy Acquired Facial Nerve Palsy A condition characterized by reduced or absent movement of the ipsilateral face as a consequence of an injury to the seventh cranial nerve that has occurred after birth. A condition characterized by reduced or absent movement of the ipsilateral face as a consequence of an injury to the seventh cranial nerve that has occurred after birth. C26769 Facial Nerve Palsy C90259 NICHD Terminology C116903 Spastic Cerebral Palsy Spastic Cerebral Palsy A type of cerebral palsy characterized by increased muscle tone. A type of cerebral palsy characterized by increased muscle tone. C34460 Cerebral Palsy C90259 NICHD Terminology C116904 Spastic Quadriplegia Spastic Quadriplegia A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities. A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities. C34460 Cerebral Palsy C90259 NICHD Terminology C116905 Spastic Hemiplegia Spastic Hemiplegia A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body. A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body. C34460 Cerebral Palsy C90259 NICHD Terminology C116906 Hypotonic Cerebral Palsy Hypotonic Cerebral Palsy A type of cerebral palsy characterized by decreased muscle tone. A type of cerebral palsy characterized by decreased muscle tone. C34460 Cerebral Palsy C90259 NICHD Terminology C116907 Subgaleal Hemorrhage Related to Birth Subgaleal Hemorrhage Related to Birth Epicranial Subaponeurotic Hemorrhage Related to Birth Bleeding in the potential space between the skull periosteum and the scalp galea aponeurosis of a newborn infant due to shearing forces on the tentorium and deep venous system during labor and delivery. Bleeding in the potential space between the skull periosteum and the scalp galea aponeurosis of a newborn infant due to shearing forces on the tentorium and deep venous system during labor and delivery. C50761 Subgaleal Hemorrhage C90259 NICHD Terminology C116908 Intracranial Laceration Related to Birth Intracranial Laceration Related to Birth Tearing of the cerebral or cerebellar parenchyma or vessels of a newborn infant due to forces occurring during labor and delivery. Tearing of the cerebral or cerebellar parenchyma or vessels of a newborn infant due to forces occurring during labor and delivery. C101035 Birth Injury C90259 NICHD Terminology C116909 Cerebral Hemorrhage Related to Birth Cerebral Hemorrhage Related to Birth Intracranial bleeding in the tissue of the cerebrum of a newborn infant occurring during labor and/or delivery. Intracranial bleeding in the tissue of the cerebrum of a newborn infant occurring during labor and/or delivery. C50485 Cerebral Hemorrhage C90259 NICHD Terminology C116910 Intracranial Hemorrhage Related to Birth Intracranial Hemorrhage Related to Birth Bleeding within the skull of a newborn infant occurring during labor and/or delivery. Bleeding within the skull of a newborn infant occurring during labor and/or delivery. C101035 Birth Injury C90259 NICHD Terminology C116911 Intraventricular Hemorrhage Related to Birth Intraventricular Hemorrhage Related to Birth Bleeding into the cerebral ventricles that occurs during labor and/or delivery. Bleeding into the cerebral ventricles that occurs during labor and/or delivery. C50896 Intraventricular Hemorrhage C90259 NICHD Terminology C116912 Intraventricular Hemorrhage of Prematurity Intraventricular Hemorrhage of Prematurity Bleeding within the cerebral ventricles in a preterm infant. Bleeding within the cerebral ventricles in a preterm infant. C50896 Intraventricular Hemorrhage C90259 NICHD Terminology C116916 Progressive Hemifacial Atrophy Progressive Hemifacial Atrophy Parry-Romberg Syndrome A rare disorder of unknown etiology, which is characterized by slowly progressive, unilateral facial atrophy of the skin, soft tissue, muscles, and underlying bony structures. Neurological, ocular, and oral symptoms are also often seen, including migraines, trigeminal neuralgia, enophthalmos, and dental and gingival abnormalities. A rare disorder characterized by slowly progressive, unilateral facial atrophy of the skin, soft tissue, muscles, and underlying bony structures. C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C116917 Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome Marshall Syndrome || PFAPA Syndrome An autoinflammatory syndrome of childhood which often resolves in adolescence, and is characterized by periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis. The fever cycle generally occurs every three to five weeks, and during the interim periods the child appears healthy; diagnosis is exclusionary. An autoinflammatory disorder of childhood characterized by periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis. Flares with high fever alternate with totally asymptomatic periods. It often resolves in adolescence. C2889 Autoimmune Disease C90259 NICHD Terminology C116919 Central Nervous System Lupus Central Nervous System Lupus CNS Lupus Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features. Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features. C27153 Lupus Erythematosus C90259 NICHD Terminology C116921 Cognitive Impairment Cognitive Impairment Diminished mental function. Diminished mental function. C87124 Central Nervous System Signs and Symptoms C90259 NICHD Terminology C116922 Parkinsonism Parkinsonism Parkinsonian Symptoms One or more of the following symptoms including bradykinesia associated with rigidity, resting tremor, gait disturbance, which may be due to multiple etiologies. One or more of the following symptoms including bradykinesia associated with rigidity, resting tremor, gait disturbance, which may be due to multiple etiologies. C87124 Central Nervous System Signs and Symptoms C90259 NICHD Terminology C116923 Akinesia Akinesia Lack of movement. Lack of movement. C110937 Musculoskeletal Finding C90259 NICHD Terminology C116924 Myoclonus Myoclonus A rapid, involuntary jerk of a muscle or group of muscles. A rapid, involuntary jerk of a muscle or group of muscles. C110937 Musculoskeletal Finding C90259 NICHD Terminology C116925 Motor Stereotypy Motor Stereotypies Persistent volitional repetition of non-purposeful movement. Persistent volitional, repetition of non-purposeful movement. C116757 Movement Disorders C90259 NICHD Terminology C116926 Acute Inflammatory Demyelinating Polyradiculoneuropathy Acute Inflammatory Demyelinating Polyradiculoneuropathy Acute Inflammatory Demyelinating Polyradiculopathy A subtype of Guillain-Barre syndrome that targets the myelin sheath, and is characterized by progressive weakness, distal paresthesia and autonomic dysfunction. A subtype of Guillain-Barre Syndrome that targets the myelin sheath, and is characterized by progressive weakness, distal paresthesia and autonomic dysfunction. C116345 Guillain-Barre Syndrome C90259 NICHD Terminology C116927 Acute Motor and Sensory Axonal Neuropathy Acute Motor And Sensory Axonal Neuropathy Acute Motor-Sensory Axonal Neuropathy A subtype of Guillain-Barre syndrome that targets sensory motor axons, and is characterized by acute onset of quadriparesis, distal sensory loss, areflexia, and respiratory insufficiency. A subtype of Guillain-Barre Syndrome that targets sensory motor axons, and is characterized by acute onset of quadriparesis, distal sensory loss, areflexia, and respiratory insufficiency. C116345 Guillain-Barre Syndrome C90259 NICHD Terminology C116929 Acute Motor Axonal Neuropathy Acute Motor Axonal Neuropathy A subtype of Guillain-Barre syndrome that targets motor axons, and is characterized by symmetric limb weakness, diffuse areflexia, facial and oropharyngeal muscle weakness, and respiratory insufficiency. A subtype of Guillain-Barre Syndrome that targets motor axons, and is characterized by symmetric limb weakness, diffuse areflexia, facial and oropharyngeal muscle weakness, and respiratory insufficiency. C116345 Guillain-Barre Syndrome C90259 NICHD Terminology C116933 Double Cortex Syndrome Double Cortex Syndrome Subcortical Band Heterotopia A developmental brain abnormality characterized by atypical migration of neurons during cortical development. A developmental brain abnormality characterized by abnormal migration of neurons during cortical development. C96412 Brain Development Abnormality C90259 NICHD Terminology C116936 Polymicrogyria Polymicrogyria A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction. A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction. C2934 Central Nervous System Disorder C90259 NICHD Terminology C116942 Developmental Delay Developmental Delay Failure to meet, or late achievement of developmental milestones. Failure to meet, or late achievement of developmental milestones. C89330 Developmental Disorder C90259 NICHD Terminology C116943 Motor Developmental Delay Motor Developmental Delay Failure to meet, or late achievement of motor development milestones. Failure to meet, or late achievement of motor development milestones. C116942 Developmental Delay C89330 Developmental Disorder C90259 NICHD Terminology C116955 Diencephalic Syndrome of Infancy Diencephalic Syndrome of Infancy Diencephalic Syndrome Emaciation in the setting of normal linear growth and intellectual development, which is usually associated with neoplasms involving the anterior hypothalamus in infancy or early childhood. Emaciation in the setting of normal linear growth and intellectual development, which is usually associated with neoplasms involving the anterior hypothalamus in infancy or early childhood. C98996 Neonatal Disorder C90259 NICHD Terminology C116958 Fisher Syndrome Fisher Syndrome Miller Fisher Syndrome An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia. An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia. C2889 Autoimmune Disease C90259 NICHD Terminology C116973 Bacterial Vaginosis Bacterial Vaginosis BV Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection. Bacterial overgrowth in the vagina that may be asymptomatic or that may cause foul-smelling vaginal discharge, vaginal itching, and burning. C2890 Bacterial Infection C90259 NICHD Terminology C116985 Primary Sjogren Syndrome Primary Sjogren Syndrome Primary Sjogren's syndrome Sjogren syndrome without a concomitant systemic autoimmune disorder. Sjogren syndrome without an associated systemic autoimmune disorder. C26883 Sjogren Syndrome C90259 NICHD Terminology C116986 Secondary Sjogren Syndrome Secondary Sjogren Syndrome Secondary Sjogren's syndrome Sjogren syndrome that occurs with another systemic autoimmune disorder, such as systemic lupus erythematosus or rheumatoid arthritis. Sjogren syndrome associated with another systemic autoimmune disorder, such as systemic lupus erythematosus or rheumatoid arthritis. C26883 Sjogren Syndrome C90259 NICHD Terminology C116994 Lupus Anticoagulant Disorder Lupus Anticoagulant Disorder A hypercoaguable state that results from the presence of the immunoglobulin known as Lupus Anticoagulant. The antibody interacts with cell membrane phospholipids, causing increased aggregation and adhesion of platelets, which causes increased clot formation. Though the majority of patients who test positive for lupus anticoagulant do not have lupus, those individuals afflicted with lupus have a higher probability of developing the antibody. C2889 Autoimmune Disease C26323 Hematologic Disorder C90259 NICHD Terminology C117004 Migraine Without Aura Migraine Without Aura Common Migraine A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms. A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms. C89715 Migraine C90259 NICHD Terminology C117005 Migraine With Aura Migraine With Aura A migraine disorder characterized by episodes that are preceded by focal neurological symptoms. A migraine disorder characterized by episodes that are preceded by focal neurological symptoms. C89715 Migraine C90259 NICHD Terminology C117009 Familial Hemiplegic Migraine Familial Hemiplegic Migraine A migraine disorder characterized by individual and family history of aura that includes motor weakness. A migraine disorder characterized by individual and family history of aura that includes motor weakness. C89715 Migraine C90259 NICHD Terminology C117011 Sporadic Hemiplegic Migraine Sporadic Hemiplegic Migraine A migraine disorder characterized by an aura that includes motor weakness and the absence of family history. A migraine disorder characterized by an aura that includes motor weakness and the absence of family history. C89715 Migraine C90259 NICHD Terminology C117013 Basilar-Type Migraine Basilar-type Migraine A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem. A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem. C89715 Migraine C90259 NICHD Terminology C117014 Cyclical Vomiting Cyclical Vomiting A condition characterized by recurrent, self-limiting episodes of vomiting associated with intense nausea, pallor, and lethargy. It is commonly a migraine precursor. A periodic syndrome that is commonly a migraine precursor and is characterized by recurrent, self-limiting episodes of vomiting associated with intense nausea, pallor, and lethargy. C3442 Vomiting C90259 NICHD Terminology C117015 Chronic Migraine Chronic Migraine Episodes of migraine occurring on 15 or more days per month, for more than three months. Episodes of migraine occurring on 15 or more days per month, for more than three months. C89715 Migraine C90259 NICHD Terminology C117022 Status Migranosus Status Migrainosus An episode of migraine that persists for more than 72 hours. An episode of migraine that persists for more than 72 hours. C89715 Migraine C90259 NICHD Terminology C117024 Migrainous Infarction Migrainous Infarction Migraine associated with an ischemic brain lesion. Migraine associated with an ischemic brain lesion. C89715 Migraine C90259 NICHD Terminology C117069 Migraine-Triggered Seizure Migraine-triggered Seizure A seizure triggered by a migraine. A seizure triggered by a migraine. C2962 Seizure C90259 NICHD Terminology C117070 Tension Headache Tension-type Headache Stress Headache || Tension Headache A headache associated with muscle tightness which may radiate to other parts of the body. A headache associated with muscle tightness which may radiate to other parts of the body. C34661 Headache C90259 NICHD Terminology C117074 Trigeminal Autonomic Cephalalgia Trigeminal Autonomic Cephalalgia A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms. A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms. C26733 Cranial Nerve Disorder C90259 NICHD Terminology C117077 Cluster Headache Cluster Headache A headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms. A headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms. C34661 Headache C90259 NICHD Terminology C117078 Primary Cough Headache Primary Cough Headache Valsalva-maneuver Headache Headache triggered by coughing or straining in the absence of an intracranial disorder. Headache triggered by coughing or straining in the absence of an intracranial disorder. C34661 Headache C90259 NICHD Terminology C117079 Primary Exertional Headache Primary Exertional Headache Headache triggered by exercise. Headache triggered by exercise. C34661 Headache C90259 NICHD Terminology C117081 Hemicrania Continua Hemicrania Continua A unilateral headache of moderate intensity with exacerbations of severe pain, not attributed to another disorder, that continuously persists for more than three months, and presents with ipsilateral autonomic symptoms during exacerbations. A unilateral headache of moderate intensity with exacerbations of severe pain, not attributed to another disorder, that continuously persists for more than three months, and presents with ipsilateral autonomic symptoms during exacerbations. C89715 Migraine C90259 NICHD Terminology C117082 New Daily Persistent Headache New Daily Persistent Headache A bilateral, unremitting headache of mild to moderate intensity that occurs daily and may be associated with photophobia, phonophobia, or mild nausea. A bilateral, unremitting headache of mild to moderate intensity that occurs daily and may be associated with photophobia, phonophobia, or mild nausea. C34661 Headache C90259 NICHD Terminology C117083 External Compression Headache External Compression Headache Headache resulting from pressure applied to the cutaneous nerves of the head. Headache resulting from pressure applied to the cutaneous nerves of the head. C34661 Headache C90259 NICHD Terminology C117084 Post-Herpetic Neuralgia Post-herpetic Neuralgia Pain that occurs after the disappearance of herpes zoster infection lesions. Head or facial pain associated with a cutaneous eruption in the distribution of a nerve that persists or recurs after the onset of herpes zoster infection. C26835 Nervous System Disorder C90259 NICHD Terminology C117103 Juvenile Systemic Sclerosis Juvenile Systemic Sclerosis JSSc || Juvenile Systemic Scleroderma Systemic sclerosis that is diagnosed in children. Juvenile systemic sclerosis is more likely to be of the overlap variant and presents with musculoskeletal involvement. Systemic sclerosis diagnosed in children. Juvenile systemic sclerosis is more likely to be of the overlap variant and present with musculoskeletal involvement. C72070 Systemic Sclerosis C90259 NICHD Terminology C117104 Bullous Systemic Lupus Erythematosus Bullous Systemic Lupus Erythematosus BSLE A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption. A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption. C3201 Systemic Lupus Erythematosus C90259 NICHD Terminology C117105 Discoid Rash Discoid Rash Discoid Eruption A disc-shaped patch(es) of skin inflammation that is red, raised, and scaly; it typically develops on the face, scalp, and neck, and often leaves scars and dyspigmentation as a result of postinflammatory hyperpigmentation. A disc-shaped patch(es) of skin inflammation that is red, raised, and scaly; it typically develops on the face, scalp, and neck, and often leaves scars and dyspigmentation as a result of postinflammatory hyperpigmentation. C39594 Skin Rash C90259 NICHD Terminology C117106 Malar Rash Malar Rash Malar Eruption An erythematous eruption on the central face, which can be caused by a variety of different conditions. An erythematous eruption on the central face caused by a number of conditions. C39594 Skin Rash C90259 NICHD Terminology C117107 Macular Rash Macular Rash Macular Eruption An outbreak of small, flat, red spots on the skin. An outbreak of small, flat, red spots on the skin. C39594 Skin Rash C90259 NICHD Terminology C117111 Subacute Cutaneous Lupus Erythematosus Subacute Cutaneous Lupus Erythematosus A dermatologic manifestation of lupus involving erythematous, scaly patches or plaques, generally appearing on the upper back, chest, and arms, and often following sun exposure. It most often resolves without scarring. A dermatologic manifestation of lupus involving erythematous, scaly patches or plaques, generally appearing on the upper back, chest, and arms, and often following sun exposure. It most often resolves without scarring. C26819 Cutaneous Lupus Erythematosus C90259 NICHD Terminology C117112 Lupus Erythematosus Tumidus Lupus Erythematosus Tumidus LET || Tumid Lupus Erythematosus A dermatologic manifestation of lupus involving edematous papules and plaques that are typically found on sun-exposed areas of the body. It most often resolves without scarring or pigmentation changes. A dermatologic manifestation of lupus involving edematous papules and plaques that are typically found on sun-exposed areas of the body. It most often resolves without scarring or pigmentation changes. C27153 Lupus Erythematosus C90259 NICHD Terminology C117117 Classical Phenylketonuria Classical Phenylketonuria CPKU A genetic disorder caused by a mutation in the gene that encodes the enzyme phenylalanine hydroxylase, resulting in a severe form of phenylketonuria. C81315 Phenylketonuria C90259 NICHD Terminology C117164 Psychomotor Agitation Psychomotor Agitation Severe Motor Restlessness Physical restlessness, often associated with increased motor activity. Physical restlessness, often associated with increased motor activity. C5039 Motor Manifestations C90259 NICHD Terminology C117167 Inner Restlessness Inner Restlessness A feeling of unrest and/or an inability to feel calm or relaxed. A feeling of unrest and/or an inability to feel calm or relaxed. C87124 Central Nervous System Signs and Symptoms C90259 NICHD Terminology C117168 Motor Restlessness Motor Restlessness An inability to be still and/or the need to move. An inability to be still and/or the need to move. C5039 Motor Manifestations C90259 NICHD Terminology C117171 Increased Energy Increased Energy Feeling of excessive energy, which may be associated with increased activity. Feeling of excessive energy that may be associated with increased activity. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C117193 Repetitive Behavior Repetitive Behaviors Recurring actions that are often non-purposeful. Recurring actions that are often non-purposeful. C5039 Motor Manifestations C90259 NICHD Terminology C117194 Psychomotor Retardation Psychomotor Retardation Abnormally slow physical movement. Abnormally slow thought processes and physical movement. C5039 Motor Manifestations C90259 NICHD Terminology C117195 Blunted Affect Blunted Affect Restricted Range of Emotion Restricted range of emotional expressiveness. Restricted range of emotional expressiveness. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C117196 Flat Affect Flat Affect The absence of emotional expressiveness. The absence of emotional expressiveness. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C117197 Apathy Apathy Emotional Indifference An emotional state of indifference characterized by a lack of interest or concern. An emotional state of indifference characterized by a lack of interest or concern. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C117198 Tearfulness Tearfulness Excessive crying. Excessive crying. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C117199 Depressed Mood Depressed Mood Decreased Mood || Depressed || Low Mood An emotional state characterized by feelings of sadness, emptiness, and/or tearfulness. An emotional state characterized by feelings of sadness, emptiness, and/or tearfulness. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C117201 Perinatal Subependymal Hemorrhage Perinatal Subependymal Hemorrhage Bleeding into the thick layer of immature cells under the ependymal lining at the ventrolateral aspect of the lateral cerebral ventricles occurring around the time of birth. Bleeding into the thick layer of immature cells under the ependymal lining at the ventrolateral aspect of the lateral cerebral ventricles occurring around the time of birth. C101324 Perinatal Intraventricular Hemorrhage C90259 NICHD Terminology C117202 Intraventricular Hemorrhage with Parenchymal Hemorrhage of the Newborn Intraventricular Hemorrhage with Parenchymal Hemorrhage of Newborn Grade 4 Intraventricular Hemorrhage of the Newborn || Intraventricular Hemorrhage of Newborn Grade 4 || Intraventricular Hemorrhage with Parenchymal Hemorrhage of the Newborn Bleeding into the lateral cerebral ventricles and the adjacent brain tissue of a newborn infant. Bleeding into the lateral cerebral ventricles and the adjacent brain tissue of a newborn infant. C50896 Intraventricular Hemorrhage C90259 NICHD Terminology C117203 Intraparenchymal Hemorrhage of the Newborn Parenchymal Hemorrhage of Newborn Intraparenchymal Hemorrhage of the Newborn Bleeding into the brain tissue of a newborn infant. Bleeding into the brain tissue of a newborn infant. C50896 Intraventricular Hemorrhage C90259 NICHD Terminology C117245 Decreased Attention Decreased Attention Impaired ability to focus on a subject or idea. Impaired ability to focus on a subject or idea. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C117246 Decreased Concentration Decreased Concentration Reduced ability to sustain attention. Impaired ability to sustain attention. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C117248 Manic Mood Manic Mood An emotional state characterized by marked to extreme elevation of mood with noticeable effect of functioning. An emotional state characterized by marked to extreme elevation of mood with noticeable effect on functioning. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C117252 Mood Lability Mood Lability Emotional Lability || Mood Swing A condition of frequent mood changes associated with excessive emotional reactions. A condition of frequent mood changes associated with excessive emotional reactions. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C117253 Disinhibition Disinhibited Disinhibition Unrestrained behavior, often at odds with social norms. Unrestrained behavior, often at odds with social norms. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C117254 Sphingolipidosis Sphingolipidosis An inherited metabolic disorder that affects the metabolism of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. C3235 Metabolic Disease C90259 NICHD Terminology C117261 Oppositional Behavior Oppositionality Oppositional Behavior Negative, defiant, or hostile behavior directed towards authority. Negative, defiant, or hostile behavior directed towards authority. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C117262 Aggression Aggression A verbal or physical act of hostility. A verbal or physical act of hostility. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C117263 Nightmare Nightmare A disturbing dream that occurs during rapid eye movement sleep and results in feelings of strong terror, fear, distress, or anxiety. A disturbing dream that results in feelings of fear, distress, or anxiety. C3376 Sleep Disorder C90259 NICHD Terminology C117264 Disordered Thinking Disordered Thinking Disordered Thoughts || Thought Disorganization Incoherent, disorganized or illogical thought processes. Incoherent, disorganized or illogical thought processes. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C117265 Racing Thoughts Racing Thoughts Abnormally rapid thoughts with or without abrupt changes from one topic to another. Abnormally rapid thoughts with or without abrupt changes from one topic to another. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C117266 Flight of Ideas Flight of Ideas Rapid succession of thoughts pertaining to different subjects that are still connected. Rapid succession of thoughts pertaining to different subjects that are still connected. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C117267 Infant Irritability Infant Irritability Irritability, Infant Crying easily, difficult to console. Crying easily, difficult to console. C118807 Newborn or Infant Finding C90259 NICHD Terminology C117271 Impaired Judgment Impaired Judgement Reduced ability to plan, poor decision making. Reduced ability to plan, poor decision making. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C117272 Periventricular Hemorrhage of the Newborn Periventricular Hemorrhage of Newborn Periventricular Hemorrhage of the Newborn Bleeding into the brain tissue adjacent to the lateral cerebral ventricles of newborn infant. Bleeding into the brain tissue adjacent to the lateral cerebral ventricles of a newborn infant. C50438 Intracranial Hemorrhage C90259 NICHD Terminology C117273 Heterotaxy Syndrome Heterotaxy Syndrome Heterotaxia Syndrome A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton. C36287 Congenital or Acquired Anatomic Abnormality C90259 NICHD Terminology C117277 Demyelination Dysmyelination Breakdown, or abnormal development, of a nerve fiber myelin sheath. Breakdown, or abnormal development, of a nerve fiber myelin sheath. C87124 Central Nervous System Signs and Symptoms C90259 NICHD Terminology C117285 Obsessive Thinking Obsessive Thinking A series of thoughts that are difficult to suppress and may be a consequence or cause of anxiety. A series of thoughts that are difficult to suppress and may be a consequence or cause of anxiety. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C117286 Amotivation Amotivation Lack of drive to participate in social activities or goal oriented behavior. Lack of drive to participate in social activities or goal oriented behavior. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C117287 Night Terrors Night Terrors Sleep Terrors Episodes of abrupt awakening associated with screaming, agitation and hyperarousal. Episodes of abrupt awakening associated with screaming, agitation and hyperarousal. C3376 Sleep Disorder C90259 NICHD Terminology C117295 Cutaneous Polyarteritis Nodosa Cutaneous Polyarteritis Nodosa Cutaneous PAN A form of vasculitis that involves small to medium size arteries of the dermis and subcutaneous tissue. The disorder manifests with tender subcutaneous nodules, livedo reticularis, cutaneous ulcers and necrosis; while internal organ involvement is typically spared, extra-cutaneous symptoms may be present. A form of vasculitis that involves small to medium size arteries of the dermis and subcutaneous tissue. The disorder manifests with tender subcutaneous nodules, livedo reticularis, cutaneous ulcers and necrosis; while internal organ involvement is typically spared, extra-cutaneous symptoms may be present. C26847 Polyarteritis Nodosa C90259 NICHD Terminology C117296 Orbital Myositis Orbital Myositis A rare form of myositis that affects only the orbital muscles. A rare form of myositis that only affects the orbital muscles. C27578 Myositis C90259 NICHD Terminology C117297 Juvenile Primary Fibromyalgia Syndrome Juvenile Primary Fibromyalgia Syndrome Chronic, diffuse, non-inflammatory musculoskeletal pain disorder associated with fatigue and sleep disturbance that can occur in childhood and adolescence. Tender points are not necessary to make the diagnosis, but if present may be less numerous than found in adults. Chronic, diffuse, non-inflammatory musculoskeletal pain disorder associated with fatigue and sleep disturbance that can occur in childhood and adolescence. Tender points are not necessary to make the diagnosis, but if present may be less numerous than found in adults. C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C117305 Subarachnoid Hemorrhage Related to Birth Subarachnoid Hemorrhage Related to Birth Bleeding within the subarachnoid space occurring during labor and/or delivery. Bleeding within the subarachnoid space occurring during labor and/or delivery. C50757 Subarachnoid Hemorrhage C90259 NICHD Terminology C117306 Subdural Hemorrhage Related to Birth Subdural Hemorrhage Related to Birth Bleeding within the subdural space occurring during labor and/or delivery. Bleeding within the subdural space occurring during labor and/or delivery. C50759 Subdural Hemorrhage C90259 NICHD Terminology C117307 Benign Familial Convulsion Benign Familial Convulsions Benign Familial Neonatal Seizures A group of genetically-determined conditions characterized by a wide spectrum of seizure types occurring in otherwise healthy newborn infants that start during the first week of life and spontaneously disappear between the first and twelfth months of life. A group of genetically-determined conditions characterized by a wide spectrum of seizure type occurring in otherwise healthy newborn infants that start during the first week of life and spontaneously disappear between the first and twelfth months of life. C3020 Epilepsy C90259 NICHD Terminology C117308 Transient Neonatal Myasthenia Gravis Transient Neonatal Myasthenia Gravis A condition characterized as a temporary autoimmune neuromuscular disease leading to fluctuating muscle weakness and fatigue in a newborn infant. A condition characterized as a temporary autoimmune neuromuscular disease leading to fluctuating muscle weakness and fatigue in a newborn infant. C60989 Myasthenia Gravis C90259 NICHD Terminology C117310 Poor Sucking Reflex Poor Sucking Reflex Uncoordinated or ineffective drawing of saliva or breast milk by a newborn infant. Uncoordinated or ineffective drawing of saliva or breastmilk by a newborn infant. C81323 Sucking Reflex C90259 NICHD Terminology C117311 Drug Exposure via Breast Milk Drug Exposure Via Breast Milk Ingestion of drugs contained in breast milk. Ingestion of drugs contained in breast milk. C118807 Newborn or Infant Finding C90259 NICHD Terminology C117312 Breast Engorgement in Newborn Breast Engorgement in Newborn Neonatal Breast Enlargement Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen. Transient swelling of breast tissue in a neonate that results from the influence of waning maternal estrogen. C118807 Newborn or Infant Finding C90259 NICHD Terminology C117313 Pseudomenstruation Pseudomenstruation Pseudomenses Blood-tinged vaginal secretion in a neonate that results from the residual influence of maternal estrogen. Vaginal secretion in a neonate that results from the residual influence of maternal estrogen. C118807 Newborn or Infant Finding C90259 NICHD Terminology C117314 Neonatal Vaginal Discharge Neonatal Vaginal Discharge Secretions which may be thin or tenacious, mucoid or glairy, grayish or milky, occasionally blood tinged, that originate in the vagina and are a consequence of the residual influence of maternal estrogen. Secretions which may be thin or tenacious, mucoid or glairy, grayish or milky, occasionally blood tinged, that originate in the vagina and are a consequence of the residual influence of maternal estrogen. C36284 Reproductive System Finding C90259 NICHD Terminology C117315 Subependymal Pseudocyst Subependymal Pseudocyst Germinolytic Cyst || Subependymal Cyst Cerebral periventricular cyst located on the floor of the lateral cerebral ventricle, most commonly in the caudothalamic groove, and results from regression of the germinal matrix or as a sequela of a prior subependymal hemorrhage or germinal matrix infarct. Cerebral periventricular cysts located on the floor of the lateral cerebral ventricle, most commonly in the caudothalamic groove, and result from regression of the germinal matrix or as a sequela of a prior subependymal hemorrhage or germinal matrix infarct. C36280 Nervous System Finding C90259 NICHD Terminology C117316 Postpartum Hysterectomy Postpartum Hysterectomy The removal of the uterus after vaginal delivery of the fetus or in the postpartum period. The removal of the uterus after vaginal delivery of the fetus or in the postpartum period. C15332 Gynecologic Surgical Procedure C90259 NICHD Terminology C117317 Selective Reduction of Multifetal Pregnancy Selective Reduction of Multifetal Pregnancy Multifetal Pregnancy Reduction A medical procedure performed to reduce the number of viable fetuses. A medical procedure performed to reduce the number of viable fetuses. C89340 Obstetric Procedure C90259 NICHD Terminology C117318 Frank Umbilical Cord Prolapse Frank Umbilical Cord Prolapse A situation in which the umbilical cord is prolapsed through the cervix and into the vagina. A situation in which the umbilical cord is prolapsed through the cervix and into the vagina. C87126 Umbilical Cord Prolapse C90259 NICHD Terminology C117319 Occult Umbilical Cord Prolapse Occult Umbilical Cord Prolapse A situation in which the umbilical cord is prolapsed through the cervical canal but not through external os. A situation in which the umbilical cord is prolapsed through the cervical canal but not through external os. C87126 Umbilical Cord Prolapse C90259 NICHD Terminology C117320 Acute Placental Infarction Acute Placental Infarct A focus of necrotic placental parenchyma with clearly visible outlines of necrotic villous structures and absence of any hyalinization and fibrosis, which is frequently 1-2 days of duration. A focus of necrotic placental parenchyma with clearly visible outlines of necrotic villous structures and absence of any hyalinization and fibrosis, which is frequently 1-2 days of duration. C117337 Placental Findings C90259 NICHD Terminology C117321 Subacute Placental Infarction Subacute Placental Infarct A focus of necrotic placental parenchyma with moderate hyalinization and fibrosis with partial absence of the necrotic chorionic villi, which is frequently 3-5 days of duration. A focus of necrotic placental parenchyma with moderate hyalinization and fibrosis with partial absence of the necrotic chorionic villi, which is frequently 3-5 days of duration. C117337 Placental Findings C90259 NICHD Terminology C117322 Remote Placental Infarction Remote Placental Infarct A focus of necrotic placental parenchyma with marked hyalinization and fibrosis with complete absence of the necrotic chorionic villi, which is frequently more than 7 days of duration. A focus of necrotic placental parenchyma with marked hyalinization and fibrosis with complete absence of the necrotic chorionic villi, which is frequently more than 7 days of duration. C117337 Placental Findings C90259 NICHD Terminology C117323 Necrotizing Funisitis Necrotizing Funisitis Sclerosing Funisitis A ring of karyorrhectic debris that may exhibit dystrophic mineralization and/or identifiable fetal neutrophil infiltrate in Wharton's jelly that is oriented towards the amniotic surface. The cord has a denser ring externally and a fainter ring centrally. A ring of karyorrhectic debris that may exhibit dystrophic mineralization and/or identifiable fetal neutrophil infiltrate in Wharton's Substance that is oriented towards the amniotic surface. The cord has a denser ring externally and a fainter ring centrally. C26857 Placental Disorder C90259 NICHD Terminology C117324 Fetal Chorionic Vasculitis Fetal Chorionic Vasculitis Acute Chorionic Vasculitis A neutrophilic infiltrate arising from fetal vessels in the chorionic plate and oriented towards the amniotic cavity. A neutrophilic infiltrate arising from fetal vessels in the chorionic plate and oriented towards the amniotic cavity. C117337 Placental Findings C90259 NICHD Terminology C117325 Umbilical Vasculitis Umbilical Vasculitis Acute Umbilical Vasculitis A neutrophilic infiltrate arising from fetal vessels of the umbilical cord into the umbilical vessel wall and oriented towards the amniotic cavity. A neutrophilic infiltrate arising from fetal vessels of the umbilical cord into the umbilical vessel wall and oriented towards the amniotic cavity. C26857 Placental Disorder C90259 NICHD Terminology C117326 Intervillous Thrombus Intervillous Thrombus A focus of maternal thrombus within the intervillous space, often with peripheral villous compression. The clot may be wholly or minimally laminated reflecting age. A focus of maternal thrombus within the intervillous space, often with peripheral villous compression. The clot may be wholly or minimally laminated reflecting age. C117337 Placental Findings C90259 NICHD Terminology C117327 Acute Intervillous Thrombus Acute Intervillous Thrombus A focus of maternal thrombus within the placental intervillous space, often with peripheral villous compression, which is less than 1-2 days in age. A focus of maternal thrombus within the placental intervillous space, often with peripheral villous compression, which is less than 1-2 days in age. C117337 Placental Findings C90259 NICHD Terminology C117328 Subacute Intervillous Thrombus Subacute Intervillous Thrombus A focus of maternal thrombus within the placental intervillous space, often with peripheral villous compression, which is 3-5 days in age. A focus of maternal thrombus within the placental intervillous space, often with peripheral villous compression, which is 3-5 days in age. C117337 Placental Findings C90259 NICHD Terminology C117329 Remote Intervillous Thrombus Remote Intervillous Thrombus A focus of maternal thrombus within the placental intervillous space, often with peripheral villous compression, which is at least 5-7 days in age. A focus of maternal thrombus within the placental intervillous space, often with peripheral villous compression, which is at least 5-7 days in age. C117337 Placental Findings C90259 NICHD Terminology C117330 Subchorial Thrombus Subchorial Thrombus Subchorionic Hematoma A focus of subchorial thrombus variably extending into the intervillous space, often with peripheral villous compression. The clot may be wholly or minimally laminated reflecting age. A focus of subchorial thrombus variably extending into the intervillous space, often with peripheral villous compression. The clot may be wholly or minimally laminated reflecting age. C117337 Placental Findings C90259 NICHD Terminology C117331 Retroplacental Thrombus Retroplacental Thrombus Parabasal Hematoma || Parabasal Thrombus || Retroplacental Hematoma A focus of retroplacental thrombus variably extending into the intervillous space, often with peripheral villous compression. The clot may be wholly or minimally laminated reflecting age. A focus of retroplacental thrombus variably extending into the intervillous space, often with peripheral villous compression. The clot may be wholly or minimally laminated reflecting age. C117337 Placental Findings C90259 NICHD Terminology C117332 Fetal Stem Vessel Thrombus Fetal Stem Vessel Thrombus A focus of thrombus adhered to the wall of a fetal stem vessel. It can be completely or partially obstructive and may lead to avascular villi. A focus of thrombus adhered to the wall of a fetal stem vessel. It can be completely or partially obstructive and may lead to avascular villi. C117337 Placental Findings C90259 NICHD Terminology C117333 Fetal Stem Vessel Thrombus with or without Dystrophic Calcification Fetal Stem Vessel Thrombus with or without Dystrophic Calcification A focus of thrombus adhered to the wall of a fetal stem vessel. It can be completely or partially obstructive and may lead to downstream villous injury and calcification. A focus of thrombus adhered to the wall of a fetal stem vessel. It can be completely or partially obstructive and may lead to avascular villi and calcification. C117337 Placental Findings C90259 NICHD Terminology C117334 Chorionic Plate Vessel Thrombus Chorionic Plate Vessel Thrombus A focus of thrombus adhered to the wall of a fetal blood vessel in the chorionic plate. A focus of thrombus adhered to the wall of a fetal blood vessel in the chorionic plate. C117337 Placental Findings C90259 NICHD Terminology C117335 Chorionic Plate Vessel Thrombus with or without Dystrophic Calcification Chorionic Plate Vessel Thrombus with or without Dystrophic Calcification A focus of thrombus adhered to the wall of a fetal blood vessel in the chorionic plate. It can be completely or partially obstructive and may lead to downstream villous injury and calcification. A focus of thrombus adhered to the wall of a fetal blood vessel in the chorionic plate. It can be completely or partially obstructive and may lead to avascular villi and calcification. C117337 Placental Findings C90259 NICHD Terminology C117336 Uteroplacental Vessel Thrombus Uteroplacental Vessel Thrombus A focus of thrombus adhered to the wall of an uteroplacental vessel. A focus of thrombus adhered to the wall of an uteroplacental vessel. C117337 Placental Findings C90259 NICHD Terminology C117337 Placental Finding Placental Findings Clinical and laboratory findings about the placenta. C3367 Finding C90259 NICHD Terminology C117338 Trimmed Placental Weight Trimmed Placental Weight Disc Weight || Trimmed Placental Mass The weight of the trimmed placenta to the nearest gram, with membranes severed at the disc edge and the umbilical cord cut to within 1 cm of insertion, after draining the blood from the specimen. The weight of the trimmed placenta to the nearest gram, with membranes severed at the disc edge and the umbilical cord cut to within 1 cm of insertion, after draining the blood from the specimen. C117337 Placental Findings C90259 NICHD Terminology C117339 Untrimmed Placental Weight Untrimmed Placental Weight Placental Weight NOS || Untrimmed Placental Mass The weight of the placenta after delivery, with membranes intact and some length of the umbilical cord attached, to the nearest gram, before draining the blood from the specimen. The weight of the placenta after delivery, with membranes intact and some length of the umbilical cord attached, to the nearest gram, before draining the blood from the specimen. C117337 Placental Findings C90259 NICHD Terminology C117340 Larger Axis of Placenta Larger Axis of Placenta Larger Diameter of Placenta || Longer Diameter of Placenta The length, in cm, of the longest axis of the chorionic disc. The length, in cm, of the longest axis of the chorionic disc. C117337 Placental Findings C90259 NICHD Terminology C117341 Shorter Axis of Placenta Shorter Axis of Placenta Shorter Diameter of Placenta || Smaller Diameter of Placenta The length, in cm, of the shortest axis of the chorionic disc. The length, in cm, of the shortest chorionic disc axis measured perpendicular to the larger axis. C117337 Placental Findings C90259 NICHD Terminology C117342 Placental Disc Thickness Placental Disc Thickness The measured or estimated height of the placental disc perpendicular to the chorionic and basal plates. The measured or estimated height of the placental disc perpendicular to the chorionic and basal plates. C117337 Placental Findings C90259 NICHD Terminology C117343 Fused Placenta Fused Placenta Multifetal Placenta In pregnancies with more than one fetus, the composite structure that results from the growth of two (or more) placental chorionic discs such that the placental masses abut one another and are delivered as a single unit but can manually separated into individual units. In pregnancies with more than one fetus, the composite structure that results from the growth of two (or more) placental chorionic discs such that the placental masses abut one another and are delivered as a single unit but can manually separated into individual units. C117337 Placental Findings C90259 NICHD Terminology C117344 Bilobate Placenta Bilobate Placenta Bilobate Chorionic Surface Shape || Bipartite Placenta || Placenta Bipartita || Placenta Duplex A variant placenta in which the chorionic tissue is partitioned into two distinct discs, without consistent relationship to umbilical cord insertion. A variant placenta in which the chorionic tissue is partitioned into two distinct discs, without consistent relationship to umbilical cord insertion. C117337 Placental Findings C90259 NICHD Terminology C117345 Multilobate Placenta Multilobate Placenta Multilobate Chorionic Surface Shape || Placenta Multipartita || Placenta Multiplex A variant placenta in which the chorionic tissue is partitioned into more than two distinct discs, without consistent relationship to umbilical cord insertion. A variant placenta in which the chorionic tissue is partitioned into more than two distinct discs, without consistent relationship to umbilical cord insertion. C117337 Placental Findings C90259 NICHD Terminology C117346 Circummarginate Placenta Circummarginate Placenta Marginal Placenta || Placenta Marginalis A placenta characterized by fetal membranes which extend smoothly off the disc edge, and a subamnionic fibrin ring on all or part of the disc perimeter that delimits the greatest extent of the chorionic surface vessels. A placenta characterized by fetal membranes which extend smoothly off the disc edge, and a subamnionic fibrin ring on all or part of the disc perimeter that delimits the greatest extent of the chorionic surface vessels. C117337 Placental Findings C90259 NICHD Terminology C117347 Circumvallate Placenta Circumvallate Placenta Placenta Circumvallata A placenta characterized by fetal membranes that are folded along all or part of the disc perimeter. The amnion may or may not be included in the folded tissue. A placenta characterized by fetal membranes that are folded along all or part of the disc perimeter. The amnion may or may not be included in the folded tissue. C117337 Placental Findings C90259 NICHD Terminology C117348 Marginal Cord Insertion Marginal Cord Insertion Marginal Umbilical Cord Insertion The location of the umbilical cord insertion at the disc edge. The location of the umbilical cord insertion at the disc edge. C117337 Placental Findings C90259 NICHD Terminology C117349 Velamentous Cord Insertion Velamentous Cord Insertion Membranous Insertion || Velamentous Umbilical Cord Insertion The location of the umbilical cord insertion on the extraplacental membranes. The location of the umbilical cord insertion on the extraplacental membranes. C117337 Placental Findings C90259 NICHD Terminology C117350 Ruptured Velamentous Vessel Ruptured Velamentous Vessel Disrupted Membranous Vessel || Disrupted Velamentous Vessel || Ruptured Membranous Vessel || Torn Membranous Vessel || Torn Velamentous Vessel A fetal blood vessel in the placental membranes that appears torn upon gross inspection of the placenta. A fetal blood vessel in the placental membranes that appears torn upon gross inspection of the placenta. C117337 Placental Findings C90259 NICHD Terminology C117351 Velamentous Vessel Velamentous Vessel Membranous Vessel A fetal blood vessel in the placental membranes that extends from the cord insertion to the chorionic plate. A fetal blood vessel in the placental membranes that extends from the cord insertion to the chorionic plate. C117337 Placental Findings C90259 NICHD Terminology C117353 Umbilical Cord True Knot Umbilical Cord True Knot A folding of the umbilical cord in the form of a knot. A folding of the umbilical cord in the form of a knot. C117337 Placental Findings C90259 NICHD Terminology C117355 Hypocoiled Umbilical Cord Hypocoiled Umbilical Cord Umbilical cord with apparent reduced helical coiling of the arteries around the vein. Umbilical cord with apparent reduced helical coiling of the arteries around the vein. C117337 Placental Findings C90259 NICHD Terminology C117356 Hypercoiled Umbilical Cord Hypercoiled Umbilical Cord Umbilical cord with apparent increased helical coiling of the arteries around the vein. Umbilical cord with apparent increased helical coiling of the arteries around the vein. C117337 Placental Findings C90259 NICHD Terminology C117357 Umbilical Cord Diameter Umbilical Cord Diameter The longest measured width of the umbilical cord. The longest measured width of the umbilical cord. C117337 Placental Findings C90259 NICHD Terminology C117358 Umbilical Cord Length Umbilical Cord Length The total length of the umbilical cord as measured from all segments. A cord length less than 30 or 35 cm is considered "short" whereas one greater than 70 cm is "long". The total length of the umbilical cord as measured from all segments. A cord length less than 30 or 35 cm is considered "short" whereas one greater than 70 cm is "long". C117337 Placental Findings C90259 NICHD Terminology C117359 Single Umbilical Artery Single Umbilical Artery The absence of one of the two umbilical arteries. The absence of one of the two umbilical arteries. C117337 Placental Findings C90259 NICHD Terminology C117363 Umbilical Cord Discoloration Umbilical Cord Discoloration Brown Umbilical Cord || Dusky Umbilical Cord || Red Umbilical Cord Change in umbilical cord color resulting from postmortem changes. It indicates fetal death occurred at least 6 hours prior to delivery. Change in umbilical cord color resulting from postmortem changes. It indicates fetal death occurred at least 6 hours prior to delivery. C117337 Placental Findings C90259 NICHD Terminology C117364 Green Fetal Membrane Green Fetal Membranes Meconium Staining of the Membranes Meconium staining of the fetal membrane. Meconium staining of the fetal membranes. C117337 Placental Findings C90259 NICHD Terminology C117365 Marginal Insertion of Fetal Membrane Marginal Insertion of Fetal Membranes An observation that the fetal membranes are inserted at the edge of the placental disc. An observation that the fetal membranes are inserted at the edge of the placental disc. C117337 Placental Findings C90259 NICHD Terminology C117366 Site of Fetal Membrane Rupture Site of Fetal Membrane Rupture The space that occupies the distance between the shortest free edge of the fetal membranes and the disc edge. The distance between the shortest free edge of the fetal membranes and the disc edge. C117337 Placental Findings C90259 NICHD Terminology C117367 Complete Maternal Surface of Placenta Complete Maternal Surface of Placenta A maternal placental surface that is smooth and without appreciable parenchymal loss. A maternal placental surface that is smooth and without appreciable parenchymal loss. C117337 Placental Findings C90259 NICHD Terminology C117368 Incomplete Maternal Surface of Placenta Incomplete Maternal Surface of Placenta Disrupted Maternal Surface of Placenta || Ragged Maternal Surface of Placenta A maternal placental surface that lacks a smooth basal plate. Missing pieces of the placental parenchyma are appreciable. A maternal placental surface that lacks a smooth basal plate. Missing pieces of the placental parenchyma are appreciable. C117337 Placental Findings C90259 NICHD Terminology C117369 Uniform Color of Placental Parenchyma Uniform Color of Placental Parenchyma The typical uniform coloring of the placental parenchyma irrespective of gestational age. The typical uniform coloring of the placental parenchyma irrespective of gestational age. C117337 Placental Findings C90259 NICHD Terminology C117370 Mottled Color of Placental Parenchyma Mottled Color of Placental Parenchyma The variable or non-uniform coloring of the placental parenchyma indicating variable contribution of the blood contained within the fetal vessels to the color of the parenchyma. The variable or non-uniform coloring of the placental parenchyma indicating variable contribution of the blood contained within the fetal vessels to the color of the parenchyma. C117337 Placental Findings C90259 NICHD Terminology C117371 Gross Placental Abruption Gross Abruption Macroscopic Abruption A separation of the placenta from the uterine wall that is manifested by a retroplacental hematoma with villous compression and change in villous coloration that is reflective of lesion age. A retroplacental hematoma with villous compression and change in villous coloration reflecting lesion age. C117337 Placental Findings C90259 NICHD Terminology C117372 Placental Lesion Placental Lesion Macroscopically identifiable placental parenchymal abnormality. Macroscopically identifiable placental parenchymal abnormality. C26857 Placental Disorder C90259 NICHD Terminology C117984 Pediatric Infectious Disorder Pediatric Infectious Disease An infectious disorder that occurs during infancy, childhood, or adolescence. An infectious disease that occurs in infancy, childhood, or adolescence. C89328 Pediatric Disorder C26726 Infectious Disorder C90259 NICHD Terminology C118132 Chronic Choriodeciduitis Chronic Choriodeciduitis Chronic Chorionitis Increased parietal decidual lymphocytes invading the fetal chorion and/or amnion. Increased parietal decidual lymphocytes invading the fetal chorion and/or amnion. C26857 Placental Disorder C90259 NICHD Terminology C118134 Chronic Plasma Cell Deciduitis Chronic Plasma Cell Deciduitis The presence of decidual plasma cells, scattered or in aggregate. The presence of decidual plasma cells, scattered or in aggregate. C26857 Placental Disorder C90259 NICHD Terminology C118135 Amnion Epithelium Necrosis Amnion Epithelium Necrosis Loss of the amnionic epithelial surface. Loss of the amnionic epithelial surface. C117337 Placental Findings C90259 NICHD Terminology C118136 Parietal Decidual Spiral Vessel with Fibrinoid Necrosis-Atherosis Parietal Decidual Spiral Vessel with Fibrinoid Necrosis-Atherosis A parietal decidual spiral vessel with small lumen caliber. The muscular wall of the vessel is not identifiable; its expected location shows foamy macrophages (atherosis). A parietal decidual spiral vessel with small lumen caliber. The muscular wall of the vessel is not identifiable; its expected location shows foamy macrophages (atherosis). C117337 Placental Findings C90259 NICHD Terminology C118138 Reactive Amniocyte Reactive Amniocytes Proliferation and aggregation of amniocytes due to a meconium exposure. Proliferation and aggregation of amniocytes due to a meconium exposure. C117337 Placental Findings C90259 NICHD Terminology C118139 Amnion Nodosum Amnion Nodosum An amnion with nodular deposits of squamous and cellular debris with varying staging of re-epithelialization. An amnion with nodular deposits of squamous and cellular debris with varying staging of re-epithelialization. C117337 Placental Findings C90259 NICHD Terminology C118140 Appropriate Placental Villous Maturation Appropriate Placental Villous Maturation Placental villous microscopic features that are typical for the gestational age at birth. Placental villous microscopic features that are typical for the gestational age at birth. C117337 Placental Findings C90259 NICHD Terminology C118141 Fetal Circulation with Increased Nucleated Erythrocytes Fetal Circulation with Increased Nucleated Erythrocytes Increased nucleated red blood cells within the fetal circulation. Increased nucleated red blood cells within the fetal circulation. C117337 Placental Findings C90259 NICHD Terminology C118142 Placental Villous Dysmaturity Placental Villous Dysmaturity Placental villous histology not typical of gestational age, with developmentally abnormal features. Placental villous histology not typical of gestational age, with developmentally abnormal features. C117337 Placental Findings C90259 NICHD Terminology C118143 Accelerated Placental Villous Maturation Accelerated Placental Villous Maturation Placental villous histology not typical of gestational age, with features of more mature villi. Placental villous histology not typical of gestational age, with features of more mature villi. C117337 Placental Findings C90259 NICHD Terminology C118144 Increased Placental Syncytial Knots Increased Placental Syncytial Knots Increased number of syncytiotrophoblasts with clusters of apoptotic bodies compared to what would be expected for gestational age. Increased number of syncytiotrophoblasts with clusters of apoptotic bodies compared to what would be expected for gestational age. C117337 Placental Findings C90259 NICHD Terminology C118145 Placental Villous Fibrosis Placental Villous Fibrosis Increased density of placental villous stroma, often with decreased capillarization compared to what would be expected for gestational age. Increased density of placental villous stroma, often with decreased capillarization compared to what would be expected for gestational age. C117337 Placental Findings C90259 NICHD Terminology C118146 Chorangiosis Chorangiosis An increased number of local terminal placental villous capillary cross-sections, generally with decreased capillary caliber, that shows variable distribution of villi. An increased number of local terminal placental villous capillary cross-sections, generally with decreased capillary caliber, that shows variable distribution of villi. C117337 Placental Findings C90259 NICHD Terminology C118147 Placental Fibrinoid Deposition Placental Fibrinoid Deposition The presence of a small clot attached to the epithelial surface of a placental villus. The presence of a small clot attached to the epithelial surface of a placental villus. C117337 Placental Findings C90259 NICHD Terminology C118149 Hemosiderin in Decidua Parietalis Hemosiderin in Decidua Parietalis The deposition of hemosiderin along the gravid uterine wall. The deposition of hemosiderin along the gravid uterine wall. C117337 Placental Findings C90259 NICHD Terminology C118150 Hemosiderin in Decidua Basalis Hemosiderin in Decidua Basalis The deposition of hemosiderin along the gravid uterine fundus beneath the placenta. The deposition of hemosiderin along the gravid uterine fundus beneath the placenta. C117337 Placental Findings C90259 NICHD Terminology C118151 Hemosiderin in Intervillous Thrombus Hemosiderin in Intervillous Thrombus The deposition of hemosiderin in a focus of thrombus within the placental intervillous space. The deposition of hemosiderin in a focus of thrombus within the placental intervillous space. C117337 Placental Findings C90259 NICHD Terminology C118152 Avascular Placental Villi Avascular Placental Villi Focus of two or more placental terminal villi showing a total loss of villous capillaries and bland hyaline fibrosis of the villous stroma. Stromal karyorrhexis may or may not be evident. Focus of two or more placental terminal villi showing a total loss of villous capillaries and bland hyaline fibrosis of the villous stroma. Stromal karyorrhexis may or may not be evident. C117337 Placental Findings C90259 NICHD Terminology C118153 Placental Villous Stromal Hemorrhage Placental Villous Stromal Hemorrhage Extravascular blood in the chorionic villi. Extravascular blood in the chorionic villi. C117337 Placental Findings C90259 NICHD Terminology C118154 Placental Villous Stromal-Vascular Karyorrhexis Placental Villous Stromal-Vascular Karyorrhexis Hemorrhagic Placental Endovasculitis Three or more foci of two or more placental terminal villi showing karyorrhexis of fetal cells with preservation of the surrounding trophoblast. The villi may also show stromal hypercellularity and mineralization, and can either be hypovascular or only exhibit capillary degenerative changes. Entrapped red blood cells and red blood cell fragments are often seen. Three or more foci of two or more placental terminal villi showing karyorrhexis of fetal cells with preservation of the surrounding trophoblast. The villi may also show stromal hypercellularity and mineralization, and can either be hypovascular or only exhibit capillary degenerative changes. Entrapped red blood cells and red blood cell fragments are often seen. C117337 Placental Findings C90259 NICHD Terminology C118155 Placental Stromal Dusty Mineralization Placental Stromal Dusty Mineralization The deposition of iron and/or calcium within the supporting tissues of the placenta. The deposition of iron and/or calcium within the supporting tissues of the placenta. C117337 Placental Findings C90259 NICHD Terminology C118156 Absent Physiologic Conversion of Uteroplacental Vessel Absent Physiologic Conversion of Uteroplacental Vessel Placental Membrane Arteriole Mural Hypertrophy Failure of the maternal spiral arteries to be transformed by extravillous cytotrophoblast to increase blood flow into the placental intervillous spaces, which may lead to an increased risk of early-onset pre-eclampsia and fetal growth restriction. Failure of the maternal spiral arteries to be transformed by extravillous cytotrophoblast to increase blood flow into the placental intervillous spaces, which may lead to an increased risk of early-onset pre-eclampsia and fetal growth restriction. C117337 Placental Findings C90259 NICHD Terminology C118157 Chronic Uteroplacental Vasculitis Chronic Uteroplacental Vasculitis A lymphocytic inflammation of the uteroplacental vessels. A lymphocytic inflammation of the uteroplacental vessels. C26857 Placental Disorder C90259 NICHD Terminology C118158 Uteroplacental Vessel Fibrinoid Necrosis with or without Atherosis Uteroplacental Vessel Fibrinoid Necrosis with or without Atherosis The degeneration of an uteroplacental vessel with or without medial foamy macrophages. The degeneration of an uteroplacental vessel with or without medial foamy macrophages. C117337 Placental Findings C90259 NICHD Terminology C118159 Basal Decidual Necrosis Basal Decidual Necrosis Acellular areas of the basal plate. Acellular areas of the basal plate. C117337 Placental Findings C90259 NICHD Terminology C118160 Basal Decidual Karyorrhexis Basal Decidual Karyorrhexis Necrotizing Deciduitis Collections of degenerated nuclear fragments that are associated with tissue injury during placental abruption. Collections of degenerated nuclear fragments that are associated with tissue injury during placental abruption. C117337 Placental Findings C90259 NICHD Terminology C118161 Placental Mesenchymal Dysplasia Placental Mesenchymal Dysplasia Placental Dysplasia Aberrant mesenchymal cell growth within the placenta. It may be associated with Beckwith-Wiedemann Syndrome. Aberrant mesenchymal cell growth within the placenta. It may be associated with Beckwith-Wiedemann Syndrome. C26857 Placental Disorder C90259 NICHD Terminology C118162 Placental Hypertrophy Placental Hypertrophy Placentomegaly Aberrant growth of the placenta. Aberrant growth of the placenta. C26857 Placental Disorder C90259 NICHD Terminology C118163 Basal Myofiber Basal Myofibers A small focus of the myometrium that peels away along with the placenta and is delivered as part of the basal plate. A small focus of the myometrium that peels away along with the placenta and is delivered as part of the basal plate. C117337 Placental Findings C90259 NICHD Terminology C118167 Urinary Leakage Urinary Leak Extravasation of urine outside the urinary collecting system. Extravasation of urine outside the urinary collecting system. C36286 Urinary System Finding C90259 NICHD Terminology C118170 Confusional Arousal Confusional Arousal Excessive Sleep Inertia || Sleep Drunkeness Disorganized thinking, disorientation, or inappropriate responsiveness to external stimuli that occurs during and after awakening. Disorganized thinking, disorientation, or inappropriate responsiveness to external stimuli that occurs during and after awakening. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C118171 Sleep Paralysis Sleep Paralysis Temporary inability to speak or move while waking up or falling asleep. Temporary inability to speak or move while waking up or falling asleep. C3376 Sleep Disorder C90259 NICHD Terminology C118172 Nocturnal Enuresis Bedwetting Nocturnal Enuresis || Sleep Enuresis Urination during sleep. Urination during sleep. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C118173 Pressured Speech Pressured Speech Abnormal increased rate and amount of speech, delivered with urgency. Abnormally increased rate and amount of speech, delivered with urgency. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C118174 Auditory Hallucination Auditory Hallucination Perception of sound in the absence of a corresponding stimulus. Perception of sound in the absence of a corresponding stimulus. C37961 Hallucination C90259 NICHD Terminology C118175 Olfactory Hallucination Olfactory Hallucination Perception of a smell in the absence of a corresponding stimulus. Perception of a smell in the absence of a corresponding stimulus. C37961 Hallucination C90259 NICHD Terminology C118176 Tactile Hallucination Tactile Hallucination Perception of pressure or touch in the absence of a corresponding stimulus. Perception of pressure or touch in the absence of a corresponding stimulus. C37961 Hallucination C90259 NICHD Terminology C118177 Gustatory Hallucination Gustatory Hallucination Perception of a taste in the absence of a corresponding stimulus. Perception of a taste in the absence of a corresponding stimulus. C37961 Hallucination C90259 NICHD Terminology C118178 Proprioceptive Hallucination Proprioceptive Hallucination Perception of the orientation of the body in space, manifesting as a sensation of floating, flying, in the absence of a corresponding stimulus. Perception of the orientation of the body in space, manifesting as a sensation of floating, flying, without a corresponding stimulus. C37961 Hallucination C90259 NICHD Terminology C118179 Visual Hallucination Visual Hallucination Optical perception of an object, person or event in the absence of a corresponding stimulus. Optical perception of an object, person or event in the absence of a corresponding stimulus. C37961 Hallucination C90259 NICHD Terminology C118180 Hyperphagia Hyperphagia Excessive appetite. Excessive appetite. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C118186 Acoria Acoria Akoria Absence of satiety after eating. Absence of satiety after eating. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C118187 Bradyphagia Bradyphagia Abnormally slow eating. Abnormally slow eating. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C118188 Sleep Related Eating Disorder Sleep Related Eating Disorder Eating during sleep. Eating during sleep. C89332 Eating Disorder C90259 NICHD Terminology C118189 Hypersexualism Hypersexualism Excessive sexual behavior. Excessive sexual behavior. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C118190 Reactive Attachment Disorder of Infancy or Early Childhood Reactive Attachment Disorder of Infancy or Early Childhood A condition in which the failure to establish healthy bonds with caregivers in early childhood leads to lifelong impairment of social interactions. A condition in which the failure to establish healthy bonds with caregivers in early childhood leads to lifelong impairment of social interactions. C92190 Pediatric Psychiatric Disorder C90259 NICHD Terminology C118200 Developmental Regression Regression Reversion to an earlier stage of development. Reversion to an earlier stage of development. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C118201 Cutting Behavior Cutting Behavior Self-injury caused by making cuts into the skin. Self-injury caused by making cuts into the skin. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C118205 Homicidal Ideation Homicidal Ideation Thinking about ending or making plans to end another's life. Thinking about ending or making plans to end another's life. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C118206 Self-Injury Self-Injury Self-Harm Self-inflicted harm without the intent to die. Self-inflicted harm without the intent to die. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C118233 Childhood Linear IgA Disease Childhood Linear IgA Disease Chronic Bullous Disease of Childhood A blistering disorder characterized by linear deposition of IgA at the dermoepidermal junction. A blistering disorder characterized by linear deposition of IgA at the dermoepidermal junction. C2889 Autoimmune Disease C90259 NICHD Terminology C118240 Periodic Fever Syndrome Periodic Fever Syndrome Fevers of unknown etiology recurring over months or years. An umbrella term for disorders characterized by persistent, episodic fevers with variable clinical manifestations. They do not have an infectious etiology and lack autoantibodies or autoreactive T cells. Some are autoinflammatory in origin. C9229 Systemic Disorder C90259 NICHD Terminology C118258 Thymic Damage Thymic Damage Anatomic injury or physiologic dysfunction of the thymus gland. Anatomic injury or physiologic dysfunction of the thymus gland. C36285 Endocrine System Finding C90259 NICHD Terminology C118297 Bacterial Meningitis Bacterial Meningitis Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection. Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection. C26828 Meningitis C2890 Bacterial Infection C90259 NICHD Terminology C118298 Viral Meningitis Viral Meningitis Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection. Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection. C26828 Meningitis C90259 NICHD Terminology C118299 Aseptic Meningitis Aseptic Meningitis Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen. Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen. C26828 Meningitis C90259 NICHD Terminology C118301 Sialorrhea Sialorrhea Hypersalivation An increase in saliva secretion. An increase in saliva secretion. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C118302 Sedated Sedation A state of a lowered level of consciousness. A state of a lowered level of consciousness. C36280 Nervous System Finding C90259 NICHD Terminology C118303 Polyuria Polyuria Excessive or frequent urination. Excessive or frequent urination. C36286 Urinary System Finding C90259 NICHD Terminology C118304 Micropsia Micropsia An alteration in visual perception that causes objects to appear smaller than their actual size. An alteration in visual perception that causes objects to appear smaller than their actual size. C26835 Nervous System Disorder C90259 NICHD Terminology C118305 Macropsia Macropsia An alteration in visual perception that causes objects to appear larger than their actual size. An alteration in visual perception that causes objects to appear larger than their actual size. C26835 Nervous System Disorder C90259 NICHD Terminology C118306 Tooth Malformation Tooth Malformation Any abnormality in the growth or formation of one or more teeth. Any abnormality in the growth or formation of one or more teeth. C35596 Tooth Development Disorder C90259 NICHD Terminology C118307 White Matter Injury White Matter Injury Focal areas of necrosis, with or without cysts, and diffuse areas of white matter dysmaturation with maturation arrest of the pre-oligodendroglia cells, located in the cerebral white matter. Focal areas of necrosis, with or without cysts, and diffuse areas of white matter dysmaturation with maturation arrest of the pre-oligodendroglia cells, located in the cerebral white matter. C3671 Injury C90259 NICHD Terminology C118308 Sacral Fistula Sacral Fistula A pathologic communication between the skin and the dural space that is located 5-25 mm from the anal verge. A communication between the skin and the dural space that is located 5-25mm from the anal verge. C3045 Fistula C90259 NICHD Terminology C118309 Coccygeal Sinus Coccygeal Sinus Coccygeal Pit A blind-ending, epithelial-lined tract that is located less than 5 mm from the anal verge. A blind-ending, epithelial-lined tract that is located less than 5 mm from the anal verge. C36287 Congenital or Acquired Anatomic Abnormality C90259 NICHD Terminology C118310 Insufficient Breast Milk Syndrome Insufficient Breast Milk Syndrome Insufficient Milk Syndrome Failure to thrive due to poor intake by the infant, inadequate feeding schedule or insufficient maternal production of breast milk. Failure to thrive due to poor intake by the infant, inadequate feeding schedule or insufficient maternal production of breast milk. C98996 Neonatal Disorder C90259 NICHD Terminology C118312 Neonatal Aspiration Syndrome Neonatal Aspiration Syndrome Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn. Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn. C99232 Neonatal Respiratory System Disorder C90259 NICHD Terminology C118313 Ventral Hernia Ventral Hernia The protrusion of abdominal cavity contents through the anterior abdominal wall. The protrusion of abdominal cavity contents through the anterior abdominal wall. C34685 Hernia C90259 NICHD Terminology C118316 Mucosal Ulcer Mucosal Ulcer A circumscribed loss of integrity of the mucous membrane. A circumscribed loss of integrity of the mucous membrane. C3426 Ulcer C90259 NICHD Terminology C118318 Rhabdomyolysis Rhabdomyolysis A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma. A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma. C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C118374 Epigastric Hernia Epigastric Hernia Protrusion of abdominal cavity contents or pre-peritoneal fat through the abdominal wall between the umbilicus and the xiphoid process. Protrusion of abdominal cavity contents or pre-peritoneal fat through the abdominal wall between the umbilicus and the xiphoid process. C34685 Hernia C90259 NICHD Terminology C118375 Umbilical Hernia Umbilical Hernia Protrusion of the abdominal cavity contents through the abdominal wall at the umbilicus. Protrusion of the abdominal cavity contents through the abdominal wall at the umbilicus. C34685 Hernia C90259 NICHD Terminology C118381 Apophysitis Apophysitis Inflammation of a bony outgrowth located near the attachment site for muscles. Inflammation of a bony outgrowth located near the attachment site for muscles. C110937 Musculoskeletal Finding C90259 NICHD Terminology C118382 Epiphysiolysis Epiphysiolysis Abnormal separation of an epiphysis from the shaft of a bone. Abnormal separation of an epiphysis from the shaft of a bone. C110937 Musculoskeletal Finding C90259 NICHD Terminology C118384 Slipped Capital Femoral Epiphysis Slipped Capital Femoral Epiphysis Separation of the femoral head and neck through the epiphyseal plate. Separation of the femoral head and neck through the epiphyseal plate. C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C118385 Avascular Necrosis Avascular Necrosis Tissue death resulting from an interruption to the blood supply. Tissue death resulting from an interruption to the blood supply. C35552 Cardiovascular System Finding C90259 NICHD Terminology C118392 Nonunion of Bone Nonunion Nonunion of Bone The permanent failure of bone to heal, commonly due to a fracture or an osteotomy. The permanent failure of bone to heal, commonly due to a fracture or an osteotomy. C110937 Musculoskeletal Finding C90259 NICHD Terminology C118393 Malunion of Bone Malunion Malunion of Bone Faulty healing of bone, resulting in improper anatomical alignment. Faulty healing of bone, resulting in improper anatomical alignment. C110937 Musculoskeletal Finding C90259 NICHD Terminology C118419 Labor Complication Labor Complication Any unintended event during the labor process that makes delivery more difficult. C2959 Complication C90259 NICHD Terminology C118420 Otolaryngologic Disorder Otolaryngologic Disorder A non-neoplastic or neoplastic disorder that affects the ears, nose, paranasal sinuses, oral cavity, or throat. C2991 Disease or Disorder C90259 NICHD Terminology C118422 Compartment Syndrome Compartment Syndrome Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space. Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space. C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C118423 Infantile Cortical Hyperostosis Infantile Cortical Hyperostosis Caffey Disease A self-limited inflammatory disorder of unknown etiology found in infants that causes swelling of the soft tissue, changes to bone, and irritability. An autosomal dominant condition caused by mutation(s) in the COL1A1 gene encoding the collagen alpha-1(I) chain. This disease is an acute inflammatory condition of infancy that causes soft tissue swelling (mostly of chin/cheeks), bone thickening/widening (particularly of the mandible/clavicles/long bones), pain, and irritability. This disease generally resolves by the 3rd year of life, although some bony deformity may persist. C89328 Pediatric Disorder C90259 NICHD Terminology C118433 Muscle Stiffness Muscle Stiffness A feeling of tension or tightness in one or more muscles. A feeling of tension or tightness in one or more muscles. C110937 Musculoskeletal Finding C90259 NICHD Terminology C118434 Albright's Hereditary Osteodystrophy Albright Hereditary Osteodystrophy A rare, autosomal dominant syndrome caused by mutations in the GNAS gene. It is characterized by the presence of short stature, obesity, round face, brachydactyly, subcutaneous ossifications, and pseudohypoparathtyroidism. Generalized osteodystrophy associated with heterozygous inactivating mutation(s) in the GNAS gene encoding guanine nucleotide-binding protein, alpha-stimulating (Gs-alpha), characterized by short stature, subcutaneous ossification, and skeletal anomalies. If the mutation is on the paternal allele, hormone resistance is absent. If the mutation is on the maternal allele, hormone resistance is present. C3101 Genetic Disorder C90259 NICHD Terminology C118437 Glycogen Storage Disease Type VII Glycogen Storage Disease Type VII Phosphofructokinase Deficiency A rare, autosomal recessive inherited metabolic disorder caused by mutation in the PFKM gene. It results in the deficiency of the M subunit of the phosphofructokinase enzyme. It is characterized by the presence of muscle pain and weakness and sometimes rhabdomyolysis with myoglobinuria, following exercise. Affected infants develop muscle weakness. Patients with the hemolytic form of this disorder develop hemolytic anemia without signs or symptoms of muscle pain and weakness. A rare, autosomal recessive, inherited, metabolic disorder that is caused by mutation of the PFKM gene, resulting in the deficiency of the M subunit of the phosphofructokinase enzyme. It is characterized by the presence of muscle pain and weakness and sometimes rhabdomyolysis with myoglobinuria, following exercise; affected infants develop muscle weakness. Patients with the hemolytic form of this disorder develop hemolytic anemia without signs or symptoms of muscle pain and weakness. C131630 Anemia due to Erythrocyte Enzyme Disorder C61272 Glycogen Storage Disease C90259 NICHD Terminology C118455 Sirenomelia Sirenomelia A disorder characterized by the malformation of the legs into a single lower limb. A disorder characterized by the malformation of the legs into a single lower limb. C89337 Congenital Musculoskeletal Defect C90259 NICHD Terminology C118456 Hair Tourniquet Hair Tourniquet Hair-Thread Tourniquet Syndrome A condition in which a hair or thread becomes wrapped around a digit obstructing blood flow. A condition in which a hair or thread becomes wrapped around a digit obstructing blood flow. C3671 Injury C90259 NICHD Terminology C118458 Cheiromegaly Cheiromegaly Chiromegaly Abnormal enlargement of one or both hands, along with hyperhydrosis. Abnormal enlargement of one or both hands. C89330 Developmental Disorder C90259 NICHD Terminology C118459 Amastia Amastia Absence of one or both mammary glands. Absence of one or both mammary glands. C89337 Congenital Musculoskeletal Defect C90259 NICHD Terminology C118460 Blount's Disease Blount's Disease A growth disorder of the tibia in children and adolescents that presents as progressive bowing of one or both legs. A growth disorder of the tibia in children and adolescents that presents as progressive bowing of one or both legs. C89330 Developmental Disorder C90259 NICHD Terminology C118469 Growth Failure of Unknown Etiology Growth Failure of Unknown Etiology Subnormal linear growth rate in an infant, child or adolescent based on the normative values for the age and sex of the reference population; the cause of the growth failure is unknown. Subnormal linear growth rate in an infant, child, or adolescent based on the normative values for the age and sex of the reference population; the cause of the growth failure is unknown. C36285 Endocrine System Finding C90259 NICHD Terminology C118470 Failure of Catch-Up Growth Failure of Catch-Up Growth Failure to achieve a linear growth rate sufficient to restore height to within the normative range for the reference population. Failure to achieve a linear growth rate sufficient to restore height to within the normal range for the reference population. C36285 Endocrine System Finding C90259 NICHD Terminology C118475 Suppurative Arthritis Suppurative Arthritis Pyogenic Arthritis Acute inflammation of one or more joints caused by the presence of pus within the joint cavity. Acute inflammation of one or more joints caused by the presence of pus within the joint cavity. C2883 Arthritis C90259 NICHD Terminology C118507 Neonatal Seizure Neonatal Seizure Abnormal hypersynchronous electrical activity in the brain of a newborn which may be associated with stereotyped movements or autonomic changes. Abnormal hypersynchronous electrical activity in the brain of a newborn infant which may be associated with stereotyped movements or autonomic changes. C2962 Seizure C90259 NICHD Terminology C118508 Gasping Syndrome Gasping Syndrome Neonatal Gasping Syndrome A syndrome in preterm neonates exposed to benzyl alcohol preservative in intravascular solutions that is characterized by unremitting gasping respirations and may include anion gap metabolic acidosis, neurologic deterioration, renal failure, convulsions, intraventricular hemorrhage, and cardiovascular collapse. A syndrome in preterm neonates exposed to benzyl alcohol preservative in intravascular solutions that is characterized by unremitting gasping respirations and may include anion gap metabolic acidosis, neurologic deterioration, renal failure, convulsions, intraventricular hemorrhage, and cardiovascular collapse. C89328 Pediatric Disorder C90259 NICHD Terminology C118509 Neonatal Spell Neonatal Spell Neonatal Spells Cardiorespiratory events that are characterized by variable combinations of cessation of breathing, decrease in blood oxygen saturation, and decreased heart rate. Cardiorespiratory events that are characterized by variable combinations of cessation of breathing, decrease in blood oxygen saturation, and decreased heart rate. C98996 Neonatal Disorder C90259 NICHD Terminology C118632 Bardet-Biedl Syndrome Bardet-Biedl Syndrome Laurence-Moon Syndrome || Laurence-Moon-Bardet-Biedl Syndrome || Laurence-Moon-Biedl Syndrome An autosomal recessive inherited syndrome caused by mutations in at least fourteen different genes, called BBS genes. It is characterized by loss of vision, obesity, diabetes, hypertension, hypercholesterolemia, polydactyly, intellectual disability, genital organs abnormalities, and delayed development of motor skills. A collection of autosomal recessive syndromes with similar phenotypes associated with mutations in at least one BBS gene. Clinical characteristics of this genetically heterogenous syndrome may include, but are not limited to, obesity, diabetes, hand anomalies, retinal dystrophy, genital anomalies, developmental delay, hypertension, and hypercholesterolemia. C28193 Syndrome C90259 NICHD Terminology C118675 Mitochondrial Enzyme Deficiency Mitochondrial Enzyme Deficiency A constellation of disorders whose common thread is the insufficient quantity of one or more mitochondrial enzymes. A constellation of disorders whose common thread is the insufficient quantity of one or more mitochondrial enzymes. C3492 Enzyme Deficiency C90259 NICHD Terminology C118676 Perinatal Mortality Perinatal Mortality Fetal or infant death during the period of time that includes the antepartum, intrapartum, and neonatal stages. Fetal or infant death during the period of time that includes the antepartum, Intrapartum, and neonatal stages. C90491 Pregnancy Outcome C90259 NICHD Terminology C118677 Very Preterm Infant Very Preterm Infant An age group comprised of infants greater than 28 weeks, 0 days and less than 34 weeks, 0 days. A newborn infant greater than 28 weeks, 0 days and less than 34 weeks, 0 days. C16731 Newborn C90259 NICHD Terminology C118678 Acquired Growth Hormone Deficiency Acquired Growth Hormone Deficiency Growth hormone deficiency that is not present at birth; this condition may result from a variety of causes such as intracranial tumors or their treatment, infection, trauma or other cause. Growth hormone deficiency, the cause of which is not present at birth. C112835 Growth Hormone Deficiency C90259 NICHD Terminology C118679 Congenital Growth Hormone Deficiency Congenital Growth Hormone Deficiency Growth hormone deficiency the cause of which is present at birth. Growth hormone deficiency, the cause of which is present at birth. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C118680 Growth Hormone Neurosecretory Dysfunction Growth Hormone Neurosecretory Dysfunction Reduced spontaneous secretion of growth hormone with normal range response to growth hormone provocative stimuli. Reduced spontaneous secretion of growth hormone with normal range response to growth hormone provocative stimuli. C36285 Endocrine System Finding C90259 NICHD Terminology C118682 Idiopathic Isolated Growth Hormone Deficiency Idiopathic Isolated Growth Hormone Deficiency Insufficient secretion of growth hormone for which no underlying cause can be found. Growth hormone deficiency for which no underlying cause can be identified. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C118683 Iatrogenic Growth Failure Iatrogenic Growth Failure Growth failure due to medical intervention. Growth failure due to medical intervention. C36285 Endocrine System Finding C90259 NICHD Terminology C118686 Short Stature Short Stature Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual. Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual. C3367 Finding C90259 NICHD Terminology C118688 Familial Idiopathic Short Stature Familial Idiopathic Short Stature Constitutional Short Stature Idiopathic short stature in a child when either one or both parents is short in stature. Idiopathic short stature in a child when either one or both parents is short in stature. C118686 Short Stature C90259 NICHD Terminology C118689 Idiopathic Short Stature Idiopathic Short Stature ISS Height greater than two standard deviations below the mean for the age and sex of the reference population. Height less than two standard deviations below the mean for the age and sex of the reference population for the age and sex of the individual for which no underlying cause can be identified. C118686 Short Stature C90259 NICHD Terminology C118690 Non-familial Idiopathic Short Stature Non-Familial Idiopathic Short Stature Idiopathic short stature in a child when neither parent is short in stature. Idiopathic short stature in a child when neither parent is short in stature. C118686 Short Stature C90259 NICHD Terminology C118691 Tall Stature Tall Stature Height greater than two standard deviations above the mean of the appropriate reference population for the age and sex of the individual. Height greater than two standard deviations above the mean of the appropriate reference population for the age and sex of the individual. C3367 Finding C90259 NICHD Terminology C118692 Idiopathic Tall Stature Idiopathic Tall Stature Tall stature for which no underlying cause can be found. Height more than two standard deviations above the mean of the appropriate reference population for the age and sex of the individual for which no underlying cause can be identified. C118691 Tall Stature C90259 NICHD Terminology C118693 Familial Idiopathic Tall Stature Familial Idiopathic Tall Stature Constitutional Tall Stature || Familial Tall Stature Idiopathic tall stature in a child when either one or both parents is tall in stature. Idiopathic tall stature in a child when either one or both parents is tall in stature. C118691 Tall Stature C90259 NICHD Terminology C118695 Non-familial Idiopathic Tall Stature Non-Familial Idiopathic Tall Stature Idiopathic tall stature in a child when neither parent is tall in stature. Idiopathic tall stature in a child when neither parent is tall in stature. C118691 Tall Stature C90259 NICHD Terminology C118697 Hypochondroplasia Hypochondroplasia An autosomal dominant disorder that is often caused by a defect in fibroblast growth factor receptor 3, and characterized by short stature, micromelia, and a comparatively large head. The features are milder than those seen in achondroplasia. A condition phenotypically similar to, but milder than, achondroplasia that is often caused by mutations in the FGFR3 gene. C36285 Endocrine System Finding C90259 NICHD Terminology C118698 Small for Gestational Age for Weight Small for Gestational Age for Weight SGA for Weight Birth weight greater than two standard deviations below the mean for the reference population of the same sex and gestational age. Birth weight greater than two standard deviations below the mean for the reference population of the same sex and gestational age. C114934 Small for Gestational Age C90259 NICHD Terminology C118699 Small for Gestational Age for Length Small for Gestational Age for Length SGA for Length Birth length greater than two standard deviations below the mean for the reference population of the same sex and gestational age. Birth length greater than two standard deviations below the mean for the reference population of the same sex and gestational age. C114934 Small for Gestational Age C90259 NICHD Terminology C118700 Small for Gestational Age for Weight and Length Small for Gestational Age for Weight and Length SGA for Weight and Length Birth weight and length greater than two standard deviations below the mean for the reference population of the same sex and gestational age. Birth weight and length greater than two standard deviations below the mean for the reference population of the same sex and gestational age. C114934 Small for Gestational Age C90259 NICHD Terminology C118702 Small for Gestational Age with Failure of Catch-Up Growth Small for Gestational Age with Failure of Catch-up Growth A condition in which a child who was born small for gestational age, fails to achieve a linear growth rate sufficient to restore height to within the normal range for the reference population. A condition in which a child who was born small for gestational age fails to achieve a linear growth rate sufficient to restore height to within the normal range for the reference population. C114934 Small for Gestational Age C90259 NICHD Terminology C118707 Cortical Blindness Cortical Blindness Visual impairment due to visual cortex dysfunction. Visual impairment due to visual cortex dysfunction. C97109 Blindness C90259 NICHD Terminology C118708 Orbital Contusion Orbital Contusion Bruising of the skin and soft tissue surrounding the eye. Bruising of the skin and/or soft tissue surrounding the eye. C99208 Eye Finding C90259 NICHD Terminology C118709 Chemical Burn of Eye Chemical Burn of Eye Injury to the eye secondary to a chemical substance. Injury to the eye secondary to a chemical substance. C99208 Eye Finding C90259 NICHD Terminology C118710 Cerebral Visual Impairment Cerebral Visual Impairment Central Visual Impairment Visual impairment due to central nervous system dysfunction. Visual impairment due to central nervous system dysfunction. C99208 Eye Finding C90259 NICHD Terminology C118711 Optic Neuropathy Optic Neuropathy Disorder of the optic nerve. Damage to the optic nerve. C26767 Eye Disorder C90259 NICHD Terminology C118712 Acquired Color Blindness Acquired Color Blindness Non-heritable difficulty in distinguishing colors. Non-heritable difficulty in distinguishing colors. C3891 Color Blindness C90259 NICHD Terminology C118713 Inherited Color Blindness Inherited Color Blindness Genetic based difficulty in distinguishing colors. Genetic based difficulty in distinguishing colors. C3891 Color Blindness C90259 NICHD Terminology C118714 Decreased Visual Acuity Decreased Visual Acuity Visual Acuity Decreased Diminished clarity of vision. Diminished clarity of vision. C99208 Eye Finding C90259 NICHD Terminology C118715 Decreased Best Corrected Visual Acuity Decreased Best Corrected Visual Acuity Diminished clarity of vision despite optimal optical correction (glasses and/or contacts). Diminished clarity of vision despite optimal optical correction (glasses and/or contacts). C118714 Decreased Visual Acuity C90259 NICHD Terminology C118716 Decreased Uncorrected Visual Acuity Decreased Uncorrected Visual Acuity Diminished clarity of vision without optical correction (glasses and/or contacts). Diminished clarity of vision without optical correction (glasses and/or contacts). C118714 Decreased Visual Acuity C90259 NICHD Terminology C118717 Decreased Visual Acuity with Current Correction Decreased Visual Acuity with Current Correction Diminished clarity of vision with current correction (glasses and/or contacts). Diminished clarity of vision with current correction (glasses and/or contacts). C118714 Decreased Visual Acuity C90259 NICHD Terminology C118718 Binocular Diplopia Binocular Diplopia Perception of two images secondary to misalignment of the eyes. Perception of two images secondary to misalignment of the eyes. C37941 Diplopia C90259 NICHD Terminology C118719 Monocular Diplopia Monocular Diplopia Perception of more than one image when viewing with one eye. Perception of more than one image when viewing with one eye. C37941 Diplopia C90259 NICHD Terminology C118720 Opsoclonus Opsoclonus A rapid, multivectorial, conjugate, involuntary eye movement, without an intersaccadic interval. A rapid, multivectoral, conjugate, involuntary eye movement, without an intersaccadic interval. C99208 Eye Finding C90259 NICHD Terminology C118721 Posterior Vitreous Detatchment Posterior Vitreous Detatchment The separation of the vitreous from the retina. The separation of the vitreous from the retina. C26767 Eye Disorder C90259 NICHD Terminology C118722 Stye Stye An infection of one or more of the glands surrounding the eye. An infection of one or more of the glands surrounding the eye. C26767 Eye Disorder C90259 NICHD Terminology C118723 Blepharospasm Blepharospasm Involuntary twitching of the eyelid. Involuntary twitching of the eyelid and/or eyebrow. C26767 Eye Disorder C90259 NICHD Terminology C118724 Eye Redness Eye Redness The prominence of the superficial vessels of the sclera or conjunctiva resulting in a red or pink appearance. The prominence of the superficial vessels of the sclera or conjunctiva resulting in a red or pink appearance. C99208 Eye Finding C100104 Sign or Symptom C90259 NICHD Terminology C118725 Iridodialysis Iridodialysis A separation of the iris from the ciliary body. A separation of the iris from the ciliary body. C26767 Eye Disorder C90259 NICHD Terminology C118726 Pseudostrabismus Pseudostrabismus The false appearance of misalignment of the eyes. The false appearance of misalignment of the eyes. C26767 Eye Disorder C90259 NICHD Terminology C118727 Visual Field Defect Visual Field Defect An absolute or relative reduction in the extent of the normal field of vision. An absolute or relative reduction in the extent of the normal field of vision. C99208 Eye Finding C90259 NICHD Terminology C118728 Central Visual Field Defect Central Visual Field Defect Reduced or abnormal sight in the central visual field. Reduced or abnormal sight in the central visual field. C118727 Visual Field Defect C90259 NICHD Terminology C118729 Congruent Visual Field Defect Congruent Visual Field Defect Identically shaped visual field defect in the same location in both eyes. Identically shaped visual field defect in the same location in both eyes. C118727 Visual Field Defect C90259 NICHD Terminology C118731 Hemianopsia Hemianopsia Lack of sight in half of the normal field of vision. Lack of sight in half of the normal field of vision. C26767 Eye Disorder C90259 NICHD Terminology C118732 Heteronymous Visual Field Defect Heteronymous Visual Field Defect A bilateral visual field defect on opposite sides of the visual space of each eye (right or left). A bilateral visual field defect on opposite sides of the visual space of each eye (right or left). C118727 Visual Field Defect C90259 NICHD Terminology C118733 Homonymous Visual Field Defect Homonymous Visual Field Defect A bilateral visual field defect on the same side of visual space of each eye (right or left). A bilateral visual field defect on the same side of visual space of each eye (right or left). C118727 Visual Field Defect C90259 NICHD Terminology C118734 Incongruent Visual Field Defect Incongruent Visual Field Defect Non-identically shaped visual field defect in the same location in both eyes. Non-identically shaped visual field defect in the same location in both eyes. C118727 Visual Field Defect C90259 NICHD Terminology C118736 Peripheral Visual Field Defect Peripheral Visual Field Defect Reduced or abnormal sight in the peripheral visual field. Reduced or abnormal sight in the peripheral visual field. C118727 Visual Field Defect C90259 NICHD Terminology C118737 Scotoma Scotoma An area of impaired sight within the normal visual field. An area of impaired sight within the normal visual field. C26767 Eye Disorder C90259 NICHD Terminology C118739 Ocular Foreign Body Ocular Foreign Body External material that enters the eye. External material that enters the eye. C99208 Eye Finding C90259 NICHD Terminology C118740 Conjunctival Foreign Body Conjunctival Foreign Body External material in or on the conjunctiva. External material in or on the conjunctiva. C99208 Eye Finding C90259 NICHD Terminology C118741 Corneal Foreign Body Corneal Foreign Body External material in or on the cornea. External material in or on the cornea. C99208 Eye Finding C90259 NICHD Terminology C118742 Intraocular Foreign Body Intraocular Foreign Body External material inside the eyeball. Retained foreign body inside the eye, as a result of a penetrating open globe injury. C118748 Open Globe Injury C90259 NICHD Terminology C118744 Orbital Fracture Orbital Fracture A break in the orbital bone. A break in an orbital bone. C26767 Eye Disorder C3046 Fracture C90259 NICHD Terminology C118745 Retrobulbar Hemorrhage Retrobulbar Hemorrhage Bleeding in the orbital cavity that results in compression of orbital structures, resulting in ischemia of the optic nerve, and possible loss of vision. Accumulation of blood posterior to the globe. C26767 Eye Disorder C90259 NICHD Terminology C118747 Closed Globe Injury Closed Globe Injury Traumatic injury to one or more intraocular structures without full thickness wound of the eyewall (sclera and cornea). (adapted from the Birmingham Eye Trauma Terminology System (BETTS)) Traumatic injury to one or more intraocular structures without full thickness wound of the eyewall (sclera and/or cornea). (Birmingham Eye Trauma Terminology System (BETTS)) C26767 Eye Disorder C90259 NICHD Terminology C118748 Open Globe Injury Open Globe Injury A full thickness wound of the eyewall (sclera and cornea). (Birmingham Eye Trauma Terminology System (BETTS)) A full thickness wound of the eyewall (sclera and cornea). (courtesy of the International Society of Ocular Trauma-Birmingham Eye Trauma Terminology System (BETTS)) C26767 Eye Disorder C90259 NICHD Terminology C118749 Infectious Keratitis Infectious Keratitis Inflammation of the cornea secondary to an infectious process. Inflammation of the cornea secondary to an infectious process. C26805 Keratitis C90259 NICHD Terminology C118750 Photokeratitis Photokeratitis Ultraviolet Keratitis Injury to the cornea secondary to ultraviolet light. Injury to the cornea secondary to ultraviolet light. C26805 Keratitis C90259 NICHD Terminology C118752 Orbital Muscle Entrapment Orbital Muscle Entrapment The binding of one or more ocular muscles by orbital bone pieces, resulting in decreased eye mobility. The tethering of one or more ocular muscles by adjacent orbital bone pieces, resulting in reduced extraocular movement. C26767 Eye Disorder C90259 NICHD Terminology C118754 Uveal Prolapse Uveal Prolapse The protrusion of uveal tissue through an opening in the sclera. The protrusion of uveal tissue through an opening in the sclera and/or cornea. C26767 Eye Disorder C90259 NICHD Terminology C118755 Rhegmatogenous Retinal Detachment Rhegmatogenous Retinal Detachment Retinal detachment secondary to retinal tear or break. Retinal detachment secondary to retinal tear or break. C26874 Retinal Detachment C90259 NICHD Terminology C118756 Serous Retinal Detachment Serous Retinal Detachment Retinal detachment secondary to fluid accumulation under the neurosensory retina without a retinal tear or break. Retinal detachment secondary to fluid accumulation under the neurosensory retina without a retinal tear or break. C26874 Retinal Detachment C90259 NICHD Terminology C118759 Tractional Retinal Detachment Tractional Retinal Detachment Retinal detachment secondary to vasoproliferative changes in the retina and/or vitreous. Retinal detachment secondary to vasoproliferative changes in the retina and/or vitreous. C26874 Retinal Detachment C90259 NICHD Terminology C118763 Exophthalmos Exophthalmos The anterior displacement of the eye within the orbit, giving a bulging appearance. The anterior displacement of the eye within the orbit. C99208 Eye Finding C90259 NICHD Terminology C118764 Amblyopia Amblyopia Lazy Eye Decreased vision that results from abnormal visual development. Decreased vision that results from abnormal visual development. C26767 Eye Disorder C90259 NICHD Terminology C118765 Band Keratopathy Band Keratopathy The deposition of calcium on the cornea, resulting in pain and decreased visual acuity. Calcific degeneration of the superficial cornea. C26767 Eye Disorder C90259 NICHD Terminology C118807 Newborn or Infant Finding Newborn or Infant Finding Clinical, laboratory or molecular evidence, or absence of evidence of disease in a neonate or infant. C3367 Finding C90259 NICHD Terminology C118808 Childhood Colorectal Carcinoma Childhood Colorectal Carcinoma A rare colorectal carcinoma that occurs during childhood. A colorectal carcinoma occurring during childhood. C9305 Cancer C90259 NICHD Terminology C118809 Childhood Breast Carcinoma Childhood Breast Carcinoma A rare breast carcinoma that occurs during childhood. A rare breast carcinoma that occurs during childhood. C4872 Breast Cancer C90259 NICHD Terminology C118810 Childhood Carcinoid Tumor Childhood Carcinoid Tumor A rare carcinoid tumor that occurs during childhood. A carcinoid tumor that occurs during childhood. C3809 Neuroendocrine Tumor C90259 NICHD Terminology C118811 Childhood Laryngeal Carcinoma Childhood Laryngeal Carcinoma A rare carcinoma of the larynx that occurs during childhood. A rare carcinoma of the larynx that occurs during childhood. C9305 Cancer C90259 NICHD Terminology C118812 Childhood Esophageal Carcinoma Childhood Esophageal Carcinoma A rare carcinoma of the esophagus that occurs during childhood. A rare carcinoma of the esophagus that occurs during childhood. C9305 Cancer C90259 NICHD Terminology C118813 Childhood Gastric Carcinoma Childhood Gastric Carcinoma Childhood Carcinoma of the Stomach A rare carcinoma of the stomach that occurs during childhood. A gastric carcinoma occurring during childhood. C9305 Cancer C90259 NICHD Terminology C118817 Childhood Nasal Cavity Carcinoma Childhood Nasal Cavity Carcinoma A rare carcinoma of the nasal cavity that occurs during childhood. A rare carcinoma of the nasal cavity that occurs during childhood. C9305 Cancer C90259 NICHD Terminology C118818 Childhood Paranasal Sinus Carcinoma Childhood Paranasal Sinus Carcinoma A rare carcinoma of the paranasal sinus that occurs during childhood. A rare carcinoma of the paranasal sinus that occurs during childhood. C9305 Cancer C90259 NICHD Terminology C118819 Childhood Parathyroid Gland Carcinoma Childhood Parathyroid Gland Carcinoma A rare carcinoma of the parathyroid gland that occurs during childhood. A rare carcinoma of the parathyroid gland that occurs during childhood. C9305 Cancer C90259 NICHD Terminology C118824 Childhood Salivary Gland Carcinoma Childhood Salivary Gland Carcinoma A rare carcinoma of the salivary gland that occurs during childhood. A rare carcinoma of the salivary gland that occurs during childhood. C9305 Cancer C90259 NICHD Terminology C118827 Childhood Thyroid Gland Carcinoma Childhood Thyroid Gland Carcinoma Childhood Thyroid Carcinoma A rare carcinoma of the thyroid gland that occurs during childhood. Malignant tumor occurring in the thyroid gland in children. There are 3 types: papillary, follicular and medullary. C4815 Thyroid Carcinoma C90259 NICHD Terminology C118843 Allan-Herndon-Dudley Syndrome Monocarboxylate Transporter 8 Deficiency Allan-Herndon-Dudley Syndrome || MCT8-Specific Thyroid Hormone Cell Membrane Transporter Deficiency A rare, X-linked recessive inherited syndrome caused by mutations in the SLC16A2 (MCT8) gene. It affects exclusively males and is characterized by mental retardation, limited mobility, muscle hypoplasia, hypotonia, contractures, and spasticity. An X-Linked condition caused by mutation(s) in the SLC16A2 gene, characterized by elevated triiodothyronine (T3) and decreased reverse T3 concentrations due to inability to transport T3 across cell membranes. Clinical manifestations include severe cognitive deficits, hypotonia, and muscular hypoplasia. C28193 Syndrome C90259 NICHD Terminology C118857 Lamellar Laceration of the Globe Lamellar Laceration of the Globe Traumatic injury to the globe, resulting in a partial thickness wound of the eyewall (cornea and/or sclera). (adapted from the Birmingham Eye Trauma Terminology System (BETTS)) Traumatic injury to the globe, resulting in a partial thickness wound of the eyewall (cornea and/or sclera). (adapted from the International Society of Ocular Trauma-Birmingham Eye Trauma Terminology System (BETTS)) C118747 Closed Globe Injury C90259 NICHD Terminology C118858 Ocular Contusion Ocular Contusion A closed globe injury without violation of the eyewall (cornea and/or sclera), resulting in injury to one or more intraocular structures. (adapted from the Birmingham Eye Trauma Terminology System (BETTS)) A closed globe injury without violation of the eyewall (cornea and/or sclera), resulting in injury to one or more intraocular structures. (adapted from the International Society of Ocular Trauma-Birmingham Eye Trauma Terminology System (BETTS)) C118747 Closed Globe Injury C90259 NICHD Terminology C118859 Central Retinal Vein Occlusion Central Retinal Venous Occlusion Blockage of the central retinal vein. Occlusion of central retinal vein. C26875 Retinal Disorder C90259 NICHD Terminology C118860 Fat Adherence Syndrome Fat Adherence Syndrome Violation of Tenon's capsule with prolapse of orbital fat into the sub-Tenon's space. Violation of Tenon's capsule with prolapse of orbital fat into the sub-Tenon's space. C26767 Eye Disorder C90259 NICHD Terminology C118861 Anterior Segment Ischemia Anterior Segment Ischemia Compromise of blood supply to the anterior segment of the eye. Compromise of blood supply to anterior segment of eye. C99208 Eye Finding C90259 NICHD Terminology C118862 Corneal Delle Corneal Dellen Delle Corneal thinning just anterior to the limbus secondary to abnormal and/or irregular bulbar conjunctival contour. Corneal thinning just anterior to the limbus secondary to abnormal and/or irregular bulbar conjunctival contour. C26767 Eye Disorder C90259 NICHD Terminology C118863 Oculocardiac Reflex Oculocardiac Reflex Slowing or cessation of the heart rate secondary to traction on the extraocular muscle. Slowing or cessation of heart rate secondary to traction on the extraocular muscle. C99208 Eye Finding C90259 NICHD Terminology C118864 Crystalline Lens Dislocation Crystalline Lens Dislocation Displacement of the crystalline lens from the visual axis. Displacement of the crystalline lens from the visual axis. C26767 Eye Disorder C90259 NICHD Terminology C118865 Intraocular Lens Dislocation Intraocular Lens Dislocation Displacement of the intraocular lens from the visual axis. Displacement of the intraocular lens from the visual axis. C26767 Eye Disorder C90259 NICHD Terminology C118866 Lid Retraction Lid Retraction Abnormal superior displacement of resting upper lid margin or abnormal inferior displacement of resting lower lid margin. Abnormal superior displacement of resting upper lid margin or abnormal inferior displacement of resting lower lid margin. C99208 Eye Finding C90259 NICHD Terminology C118867 Slipped Extraocular Muscle Slipped Extraocular Muscle Weakness of extraocular muscle function as a result of inadequate securing of the muscle to the sclera during strabismus surgery. Weakness of extraocular muscle function as a result of inadequate securing of the muscle to the sclera during strabismus surgery. C99208 Eye Finding C90259 NICHD Terminology C118869 Penetrating Open Globe Injury Penetrating Open Globe Injury Full thickness wound of the eyewall (cornea and/or sclera) caused by the entry of a sharp object into the eye. (adapted from the Birmingham Eye Trauma Terminology System (BETTS)) Full thickness wound of the eyewall (cornea and/or sclera) caused by the entry of a sharp object into the eye. (adapted from the Birmingham Eye Trauma Terminology System (BETTS)) C118748 Open Globe Injury C90259 NICHD Terminology C118870 Perforating Open Globe Injury Perforating Open Globe Injury Open globe injury with both entrance and exit wounds in the eyewall (cornea and/or sclera) caused by the same object. Open globe injury with both entrance and exit wounds in the eyewall (cornea and/or sclera) caused by the same object. (adapted from the International Society of Ocular Trauma-Birmingham Eye Trauma Terminology System (BETTS)) C118748 Open Globe Injury C90259 NICHD Terminology C118871 Ruptured Globe Ruptured Globe Full thickness wound of the eyewall (cornea and/or sclera) due to blunt trauma. (adapted from the Birmingham Eye Trauma Terminology System (BETTS)) Full thickness wound of the eyewall (cornea and/or sclera) due to blunt trauma. (adapted from the International Society of Ocular Trauma-Birmingham Eye Trauma Terminology System (BETTS)) C118748 Open Globe Injury C90259 NICHD Terminology C118872 Optic Disc Edema Optic Disc Edema Swelling of the optic disc in the absence of increased intracranial pressure. Swelling of the optic disc in the absence of increased intracranial pressure. C99208 Eye Finding C90259 NICHD Terminology C119021 Oligoarticular Arthritis Oligoarticular Arthritis Oligoarthritis || Pauciarthritis An arthritis affecting fewer than five separate joints. An arthritis affecting fewer than five separate joints. C2883 Arthritis C90259 NICHD Terminology C119022 Early Inflammatory Arthritis Early Inflammatory Arthritis Early stages of inflammatory arthritis, when the underlying diagnosis is uncertain, usually little or no joint damage has occurred. Treatment may alter the disease course (e.g., potentially avert progression to full RA or other diagnosis). Early stages of inflammatory arthritis, when the underlying diagnosis is uncertain, usually little or no joint damage has occurred. Treatment may alter the disease course (e.g., potentially avert progression to full RA or other diagnosis). C2883 Arthritis C90259 NICHD Terminology C119023 Nonerosive Arthritis Nonerosive Arthritis Non-Erosive Arthritis An inflammation of one or more joints, without loss of articular cartilage or destruction of subchondral bone. An inflammation of one or more joints, without loss of articular cartilage or destruction of subchondral bone. C2883 Arthritis C90259 NICHD Terminology C119024 Enthesitis-Related Arthritis Enthesitis-Related Arthritis ERA || Enthesitis-Related JIA || Enthesitis-Related Juvenile Idiopathic Arthritis A category of juvenile idiopathic arthritis associated with arthritis and enthesitis, which may involve the axial skeleton. It is a form of juvenile spondyloarthritis. A category of juvenile idiopathic arthritis associated with arthritis and enthesitis, which may involve the axial skeleton. It is a form of juvenile spondyloarthritis. C114357 Juvenile Idiopathic Arthritis C90259 NICHD Terminology C119025 Post-Streptococcal Arthritis Post-Streptococcal Arthritis PSRA || Post-Streptococcal Reactive Arthritis The occurrence of arthritis after infection with group A streptococcus. It is non-migratory, protracted in course, and poorly responsive to anti-inflammatory agents. (from Textbook of Pediatric Rheumatology, 6th ed. Cassidy, Petty, Laxer, and Lindsley) The occurrence of arthritis after infection with group A streptococcus. It is non-migratory, protracted in course, and poorly responsive to anti-inflammatory agents. (from Textbook of Pediatric Rheumatology, 6th edition, Cassidy, Petty, Laxer, and Lindsley) C2883 Arthritis C90259 NICHD Terminology C119026 Lyme Arthritis Lyme Arthritis Joint inflammation, most often affecting large joints, associated with Lyme disease, presenting months after infection. Joint inflammation, most often affecting large joints, associated with Lyme disease, presenting months after infection. C2883 Arthritis C90259 NICHD Terminology C119027 Easy Bruising Easy Bruising Appearance of skin bruises following perceived minimal contact or injury. Appearance of skin bruises following perceived minimal contact or injury. C100104 Sign or Symptom C90259 NICHD Terminology C119028 Pyuria Pyuria The presence of excessive white blood cells in the urine as determined by urinalysis. The presence of excessive white blood cells in the urine as determined by urinalysis. C36292 Laboratory Test Result C90259 NICHD Terminology C119029 Lupus Headache Lupus Headache A severe, persistent headache that occurs in patients with systemic lupus erythematosus, and is nonresponsive to narcotic analgesia. A severe, persistent headache that occurs in patients with systemic lupus erythematosus, and is nonresponsive to narcotic analgesia. C34661 Headache C90259 NICHD Terminology C119030 Rheumatoid Nodule Rheumatoid Nodule A well circumscribed lump of tissue, firm to touch, typically non-tender, predominantly occurring as a cutaneous manifestation of rheumatoid arthritis localized to extensor surfaces near joints, but may be internal. A well circumscribed lump of tissue, firm to touch, typically non-tender, predominantly occurring as a cutaneous manifestation of rheumatoid arthritis localized to extensor surfaces near joints, but may be internal. C100104 Sign or Symptom C90259 NICHD Terminology C119031 Systemic Juvenile Idiopathic Arthritis Systemic Juvenile Idiopathic Arthritis Systemic Onset Juvenile Idiopathic Arthritis || sJIA A category of juvenile idiopathic arthritis defined by the presence of arthritis and high fevers, and accompanied by at least 2 of the following systemic features: lymphadenopathy, organomegaly, rash, or serositis. Macrophage activation syndrome is a well known complication. A category of juvenile idiopathic arthritis defined by the presence of arthritis and high fevers, and accompanied by at least 2 of the following systemic features: lymphadenopathy, organomegaly, rash, or serositis. Macrophage activation syndrome is a well known complication. C114357 Juvenile Idiopathic Arthritis C90259 NICHD Terminology C119032 Oligoarticular Juvenile Idiopathic Arthritis Oligoarticular Juvenile Idiopathic Arthritis Oligoarticular JIA || Pauciarticular JIA || Pauciarticular Juvenile Idiopathic Arthritis A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting between one and four separate joints during the first six months of disease. A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting between one and four separate joints during the first six months of disease. C114357 Juvenile Idiopathic Arthritis C90259 NICHD Terminology C119033 Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative Polyarticular JIA, RF- || Polyarticular Juvenile Idiopathic Arthritis, RF- A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with negative serologic testing for rheumatoid factor. A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with negative serologic testing for rheumatoid factor. C114357 Juvenile Idiopathic Arthritis C90259 NICHD Terminology C119034 Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Positive Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Positive Polyarticular JIA, RF+ || Polyarticular Juvenile Idiopathic Arthritis, RF+ A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor. A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor. C114357 Juvenile Idiopathic Arthritis C90259 NICHD Terminology C119035 Undifferentiated Juvenile Idiopathic Arthritis Undifferentiated Juvenile Idiopathic Arthritis Undifferentiated JIA A category of juvenile idiopathic arthritis that does not fulfill any single category or has criteria for more than one category. A category of juvenile idiopathic arthritis that does not fulfill any single category or has criteria for more than one category. C114357 Juvenile Idiopathic Arthritis C90259 NICHD Terminology C119036 Early Localized Lyme Disease Early Localized Lyme Disease An early stage of Lyme disease that may present within 3-30 days after a tick bite with a red, concentrically-expanding rash (erythema migrans), fatigue, chills, fever, headache, muscle and joint aches, and swollen lymph nodes. An early stage of Lyme disease that may present within 3-30 days after a tick bite with a red, concentrically-expanding rash (erythema migrans), fatigue, chills, fever, headache, muscle and joint aches, and swollen lymph nodes. C45161 Lyme Disease C90259 NICHD Terminology C119037 Early Disseminated Lyme Disease Early Disseminated Lyme Disease An early stage of Lyme disease that may present days to weeks after a tick bite with relapsing signs of a red, concentrically-expanding rash (erythema migrans), facial palsy, meningismus, neuralgia, heart palpitations, and dizziness. An early stage of Lyme disease that may present days to weeks after a tick bite with relapsing signs of a red, concentrically-expanding rash (erythema migrans), facial palsy, meningismus, neuralgia, heart palpitations, and dizziness. C45161 Lyme Disease C90259 NICHD Terminology C119038 Late Disseminated Lyme Disease Late Disseminated Lyme Disease A late stage of Lyme disease that may present in untreated patients months to years after a tick bite manifested with intermittent bouts of arthralgia, arthritis and neurologic complaints. A late stage of Lyme disease that may present in untreated patients months to years after a tick bite manifested with intermittent bouts of arthralgia, arthritis and neurologic complaints. C45161 Lyme Disease C90259 NICHD Terminology C119039 Post-Treatment Lyme Disease Syndrome Post-Treatment Lyme Disease Syndrome Chronic Lyme Disease || PTLDS A constellation of symptoms lasting months to years reported by some Lyme disease patients who had undergone previous antibiotic therapy. A constellation of symptoms lasting months to years reported by some Lyme disease patients who had undergone previous antibiotic therapy. C45161 Lyme Disease C90259 NICHD Terminology C119040 Persistent Oligoarticular Juvenile Idiopathic Arthritis Persistent Oligoarticular Juvenile Idiopathic Arthritis Persistent Oligoarticular JIA Oligoarticular juvenile idiopathic arthritis that never involves more than four separate joints after six months. Oligoarticular juvenile idiopathic arthritis that never involves more than four separate joints after six months. C119032 Oligoarticular Juvenile Idiopathic Arthritis C90259 NICHD Terminology C119041 Extended Oligoarticular Juvenile Idiopathic Arthritis Extended Oligoarticular Juvenile Idiopathic Arthritis Extended Oligoarticular JIA Oligoarticular juvenile idiopathic arthritis that eventually involves more than four separate joints. Oligoarticular juvenile idiopathic arthritis that eventually involves more than four separate joints. C119032 Oligoarticular Juvenile Idiopathic Arthritis C90259 NICHD Terminology C119042 Chronic Recurrent Multifocal Osteomyelitis Chronic Recurrent Multifocal Osteomyelitis CRMO || NBO || Non-bacterial Osteomyelitis An autoinflammatory disease characterized by sterile bone lesions which are multifocal and/or recurrent. An autoinflammatory disease characterized by sterile bone lesions which are multifocal and/or recurrent. C2889 Autoimmune Disease C90259 NICHD Terminology C119043 NALP12-Associated Hereditary Periodic Fever Syndrome NALP12-Associated Hereditary Periodic Fever Syndrome NLRP12-Associated Hereditary Periodic Fever Syndrome An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month. An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month. C3101 Genetic Disorder C2889 Autoimmune Disease C90259 NICHD Terminology C119044 Psoriatic Juvenile Idiopathic Arthritis Psoriatic Juvenile Idiopathic Arthritis Psoriatic JIA || psJIA A category of juvenile idiopathic arthritis defined by the presence of arthritis with a personal or family history of psoriasis, and features such as dactylitis and nail dystrophy. A category of juvenile idiopathic arthritis defined by the presence of arthritis with a personal or family history of psoriasis, and features such as dactylitis and nail dystrophy. C114357 Juvenile Idiopathic Arthritis C90259 NICHD Terminology C119045 Early Rheumatoid Arthritis Early Rheumatoid Arthritis Recent diagnosis of rheumatoid arthritis (usually within one to two years of onset) during which treatment may be more effective and possibly improve the disease course. Recent diagnosis of rheumatoid arthritis (usually within one to two years of onset) during which treatment may be more effective and possibly improve the disease course. C2884 Rheumatoid Arthritis C90259 NICHD Terminology C119046 Scleritis Scleritis Inflammation of the sclera. Inflammation of the sclera. C2889 Autoimmune Disease C90259 NICHD Terminology C119047 Erythema Migrans Erythema Migrans Bulls-Eye Rash || Erythema Chronicum Migrans A red, concentrically-expanding rash sometimes with central clearing, that is part of the first stage of Lyme disease caused by infection with Borrelia species. A red, concentrically-expanding rash sometimes with central clearing, that is part of the first stage of Lyme disease caused by infection with Borrelia species. C39594 Skin Rash C90259 NICHD Terminology C119048 Pain Amplification Syndrome Pain Amplification Syndrome Amplified Musculoskeletal Pain Syndrome || Chronic Widespread Pain A condition in which the nerves register normal stimuli (lack of tissue injury) as pain, resulting in feelings of intense pain with even minor sensory input. A condition in which the nerves register normal stimuli (e.g., stimuli not causing tissue injury) as pain, resulting in feelings of intense pain with even minor sensory input. C26835 Nervous System Disorder C3303 Pain C90259 NICHD Terminology C119049 Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome PPHS || Pustulo-Psoriatic Hyperostotic Spondyloarthritis || SAPHO Syndrome A syndrome characterized by synovitis, acne, pustulosis, hyperostosis, and non-infectious osteomyelitis. Includes a spectrum of aseptic neutrophilic dermatoses associated with aseptic osteoarticular lesions. A syndrome characterized by synovitis, acne, pustulosis, hyperostosis, and non-infectious osteomyelitis. Includes a spectrum of aseptic neutrophilic dermatoses associated with aseptic osteoarticular lesions. C2889 Autoimmune Disease C90259 NICHD Terminology C119050 Autoinflammatory Syndrome Autoinflammatory Syndrome A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease. A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease. C2889 Autoimmune Disease C90259 NICHD Terminology C119051 Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome Familial Hibernian Fever || TNF Receptor 1-Associated Periodic Syndrome || TRAPS An autoinflammatory disease caused by mutations in the TNFRSF1A gene coding for tumor necrosis factor receptor 1 (TNFR1). This results in attacks of fever, rash, peritoneal, pleural, or pericardial serositis and/or synovial inflammation along with increased acute phase reactants. Complications may include amyloidosis. An autoinflammatory disease caused by mutations in the TNFRSF1A gene coding for tumor necrosis factor receptor 1 (TNFR1). This results in attacks of fever, rash, peritoneal, pleural, or pericardial serositis and/or synovial inflammation along with increased acute phase reactants. Complications may include amyloidosis. C3101 Genetic Disorder C2889 Autoimmune Disease C90259 NICHD Terminology C119053 Familial Cold Autoinflammatory Syndrome Familial Cold Autoinflammatory Syndrome FCAS An autoinflammatory disease caused by mutations in the NLRP3 gene which encodes cryopyrin. It is characterized by short episodes of fever, rash, and arthralgia after exposure to cold or rapid decrease in temperature. An autoinflammatory disease caused by mutations in the NLRP3 gene which encodes cryopyrin. It is characterized by short episodes of fever, rash, and arthralgia after exposure to cold or rapid decrease in temperature. C3101 Genetic Disorder C2889 Autoimmune Disease C90259 NICHD Terminology C119054 Muckle-Wells Syndrome Muckle-Wells Syndrome MWS An autoinflammatory disease caused by mutations in the NLRP3 gene which encodes cryopyrin. It is characterized by recurrent episodes of urticaria and fever which develop in infancy. It may lead to sensorineural hearing loss and/or amyloidosis. An autoinflammatory disease caused by mutations in the NLRP3 gene which encodes cryopyrin. It is characterized by recurrent episodes of urticaria and fever which develop in infancy. It may lead to sensorineural hearing loss and/or amyloidosis. C3101 Genetic Disorder C2889 Autoimmune Disease C90259 NICHD Terminology C119055 Pyogenic Arthritis, Pyoderma Gangrenosum and Acne Pyogenic Arthritis, Pyoderma Gangrenosum and Acne PAPA An autoinflammatory disease caused by mutations in the PSTPIP1 gene. It is characterized by episodes of destructive arthritis, ulcerative skin lesions and cystic acne. An autoinflammatory disease caused by mutations in the PSTPIP1 gene. It is characterized by episodes of destructive arthritis, ulcerative skin lesions and cystic acne. C3101 Genetic Disorder C2889 Autoimmune Disease C90259 NICHD Terminology C119056 Deficiency of the Interleukin-1 Receptor Antagonist Deficiency of the Interleukin-1 Receptor Antagonist Autoinflammatory Disease due to Interleukin-1 Receptor Antagonist Deficiency || DIRA An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis. An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis. C3101 Genetic Disorder C2889 Autoimmune Disease C90259 NICHD Terminology C119057 Deficiency of the Interleukin-36 Receptor Antagonist Deficiency of the Interleukin-36 Receptor Antagonist DITRA || Familial Generalized Pustular Psoriasis || PSORP An autoinflammatory disease caused by mutations in the IL36RN gene, which encodes the IL36 receptor antagonist. It is characterized by periodic fevers and psoriasiform rash. An autoinflammatory disease caused by mutations in the IL36RN gene, which encodes the IL36 receptor antagonist. It is characterized by periodic fevers and psoriasiform rash. C3101 Genetic Disorder C2889 Autoimmune Disease C90259 NICHD Terminology C119058 Majeed Syndrome Majeed Syndrome An autoinflammatory disease caused by mutations in the LPIN2 gene. It is characterized by early-onset chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and inflammatory dermatosis. An autoinflammatory disease caused by mutations in the LPIN2 gene. It is characterized by early-onset chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and inflammatory dermatosis. C3101 Genetic Disorder C2889 Autoimmune Disease C90259 NICHD Terminology C119734 Peripheral Neuropathy Peripheral Neuropathy Peripheral Nerve Disorder A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs. A disorder affecting one or more peripheral nerves. It is manifested with pain, tingling, numbness, and/ or muscle weakness. Causes may include physical injury, toxic substances, viral infection and systemic illness. C27580 Peripheral Nervous System Disorder C90259 NICHD Terminology C119751 Neonatal Hypoxic Ischemic Encephalopathy Neonatal Hypoxic Ischemic Encephalopathy Neonatal HIE Injury to the central nervous system in the newborn period that occurs when there is insufficient delivery of oxygen to all or part of the brain. Injury to the central nervous system in the newborn period that occurs when there is insufficient delivery of oxygen to all or part of the brain. C35549 Hypoxic Ischemic Encephalopathy C90259 NICHD Terminology C119752 Developmental Dysplasia of Hip Developmental Dysplasia of Hip Congenital Dislocation of Hip || Developmental Dislocation of Hip A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation. A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation. C110937 Musculoskeletal Finding C90259 NICHD Terminology C119756 Mild Bronchopulmonary Dysplasia Mild Bronchopulmonary Dysplasia Mild BPD A chronic lung disorder associated with pulmonary maldevelopment, scarring, and/or inflammation that develops in preterm neonates exposed to supplemental oxygen for at least 28 days. For infants born before 32 weeks gestation with mild BPD, there is no supplemental oxygen requirement at 36 weeks postmenstrual age or earlier discharge. For infants born after 32 weeks with mild BPD, there is no supplemental oxygen requirement at 56 days post-natal age or at earlier discharge. A chronic lung disorder associated with pulmonary maldevelopment, scarring, and/or inflammation that develops in preterm neonates exposed to supplemental oxygen for at least 28 days. For infants born before 32 weeks gestation with mild BPD, there is no supplemental oxygen requirement at 36 weeks postmenstrual age or earlier discharge. For infants born after 32 weeks with mild BPD, there is no supplemental oxygen requirement at 56 days post-natal age or at earlier discharge. C90599 Bronchopulmonary Dysplasia C90259 NICHD Terminology C119757 Moderate Bronchopulmonary Dysplasia Moderate Bronchopulmonary Dysplasia Moderate BPD A chronic lung disorder associated with pulmonary maldevelopment, scarring, and/or inflammation that develops in preterm neonates exposed to supplemental oxygen for at least 28 days. For infants born before 32 weeks gestation with moderate BPD, there is a supplemental oxygen requirement of less than 30% at 36 weeks postmenstrual age or earlier discharge. For infants born after 32 weeks with moderate BPD, there is a supplemental oxygen requirement of less than 30% at 56 days post-natal age or at earlier discharge. A chronic lung disorder associated with pulmonary maldevelopment, scarring, and/or inflammation that develops in preterm neonates exposed to supplemental oxygen for at least 28 days. For infants born before 32 weeks gestation with moderate BPD, there is a supplemental oxygen requirement of less than 30% at 36 weeks postmenstrual age or earlier discharge. For infants born after 32 weeks with moderate BPD, there is a supplemental oxygen requirement of less than 30% at 56 days post-natal age or at earlier discharge. C90599 Bronchopulmonary Dysplasia C90259 NICHD Terminology C119758 Neonatal Encephalopathy Neonatal Encephalopathy Abnormal functioning of the central nervous system in the newborn period that may be due to a variety of etiologies including hypoxia/ischemia, metabolic disturbance, or infection. Abnormal functioning of the central nervous system in the newborn period that may be due to a variety of etiologies including hypoxia/ischemia, metabolic disturbance, or infection. C26920 Encephalopathy C90259 NICHD Terminology C119954 Macrosomia Macrosomia A newborn infant who has a weight at birth greater than 4500 grams. A newborn infant whose birth weight exceeds 4500 grams. C34941 Pregnancy Complication C90259 NICHD Terminology C119989 Acute Anterior Uveitis Acute Anterior Uveitis Sudden onset of anterior uveitis, usually unilateral, and associated with pain, erythema, photophobia, and blurred vision. Often associated with HLA-B27, with or without co-existing spondyloarthritis. Sudden onset of anterior uveitis, usually unilateral, and associated with pain, erythema, photophobia, and blurred vision. Often associated with HLA-B27, with or without co-existing spondyloarthritis. C35109 Anterior Uveitis C90259 NICHD Terminology C119990 C1q Deficiency C1q Deficiency Lack of production of functional C1q proteins, due to a genetic defect. Virtually 100% of patients with a C1q deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. Lack of production of functional C1q proteins, due to a genetic defect. Virtually 100% of patients with a C1q deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. C4691 Complement Deficiency C90259 NICHD Terminology C119991 C1r/C1s Deficiency C1r/C1s Deficiency Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. C4691 Complement Deficiency C90259 NICHD Terminology C119992 C2 Deficiency C2 Deficiency Lack of production of functional C2 protein, due to a genetic defect. It is the most common genetic complement deficiency. Ten percent of C2 deficient patient will develop systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. Lack of production of functional C2 protein, due to a genetic defect. It is the most common genetic complement deficiency. Ten percent of C2 deficient patient will develop a systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. C4691 Complement Deficiency C90259 NICHD Terminology C119993 C4 Deficiency C4 Deficiency Lack of production of functional C4 protein, due to a genetic defect requiring homozygous loss of both the C4A and C4B genetic paralogs. Approximately 75% of patients with a C4 deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. Lack of production of functional C4 protein, due to a genetic defect requiring homozygous loss of both the C4A and C4B genetic paralogs. Approximately 75% of patients with a C4 deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. C4691 Complement Deficiency C90259 NICHD Terminology C119994 Seronegative Seronegative A laboratory result which shows no presence of antibodies for which sera are being tested. In rheumatology this typically refers to absence of rheumatoid factor. A laboratory result which shows no presence of antibodies for which sera are being tested. In rheumatology this typically refers to absence of rheumatoid factor. C36292 Laboratory Test Result C90259 NICHD Terminology C119995 Low Complement Low Complement A decreased amount of complement (e.g. C3, C4, CH50) as determined through quantitative measurement. May be due to a genetic deficiency or from overconsumption due to an infection or a co-morbid autoimmune disorder. A decreased amount of complement (e.g. C3, C4, CH50) as determined through quantitative measurement. May be due to a genetic deficiency or from overconsumption due to an infection or a co-morbid autoimmune disorder. C4691 Complement Deficiency C90259 NICHD Terminology C119996 Pediatric Osteoporosis Pediatric Osteoporosis Idiopathic Juvenile Osteoporosis The finding of one or more vertebral compression (crush) fractures in the absence of local disease or high-energy trauma or the presence of both a clinically significant fracture history and BMD Z-score less than or equal to -2.0. A clinically significant fracture history is one or more of the following: 1) two or more long bone fractures by age ten years; 2) three or more long bone fractures at any age up to age nineteen years. (from 2013 International Society for Clinical Densitometry definition of Osteoporosis-Pediatric) Osteoporosis of unknown etiology that presents in childhood. C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C119997 Vasculitic Ulcer Vasculitic Ulcer A circumscribed inflammatory lesion associated with underlying ischemic disease. A circumscribed inflammatory lesion associated with underlying ischemic disease. C3426 Ulcer C90259 NICHD Terminology C119998 Low Natural Killer Cell Activity Low Natural Killer Cell Activity A decrease in the ability of peripheral mononuclear blood cells to lyse MHC I deficient target cells either due to low numbers of natural killer cells, or a reduction of their lytic activity. A decrease in the ability of peripheral mononuclear blood cells to lyse MHC I deficient target cells either due to low numbers of natural killer cells, or a reduction of their lytic activity. C3507 Immune System Disorder C90259 NICHD Terminology C119999 Scleroderma Renal Crisis Scleroderma Renal Crisis The onset of acute renal failure, normally coupled with marked hypertension in a patient with scleroderma. The onset of acute renal failure, normally coupled with marked hypertension in a patient with scleroderma. C3149 Kidney Disease C90259 NICHD Terminology C120069 Encephalopathy of Prematurity Encephalopathy of Prematurity A condition affecting premature infants characterized by white matter injury, which is frequently accompanied by neuronal/axonal disease, that may affect all brain parenchymal structures and is due to a combination of destructive processes as well as maturational and trophic disturbances. A condition affecting premature infants characterized by white matter injury, which is frequently accompanied by neuronal/axonal disease, that may affect all brain parenchymal structures and is due to a combination of destructive processes as well as maturational and trophic disturbances. C119758 Neonatal Encephalopathy C90259 NICHD Terminology C120106 Insulin Growth Factor I Deficiency Insulin Growth Factor I Deficiency IGF-I Deficiency || IGF1 Deficiency || Insulin-like Growth Factor I Deficiency Insufficient circulating insulin-like growth factor-I. Growth hormone insensitivity/resistance caused by loss-of-function mutation(s) in the IGF1 gene, encoding insulin-like growth factor I (IGF-I). This condition is characterized by severe prenatal and/or postnatal growth failure, sensorineural deafness, neurocognitive deficiencies, and elevated GH concentrations accompanied by low IGF-I concentrations. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C120107 Insulin Growth Factor I Resistance Insulin Growth Factor I Resistance IGF-I Resistance || IGF1R || Somatomedin-C Resistance Tissue unresponsiveness to insulin-like growth factor-I. Growth hormone insensitivity/resistance caused by loss-of-function mutation(s) in the IGF1R gene, encoding insulin-like growth factor 1 receptor. This phenotypically variable condition is characterized by clinical features similar to insulin-like growth factor I (IGF-I) deficiency accompanied by increased serum concentrations of IGF-I. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C120113 Short Stature Homeobox Deficiency SHOX Deficiency A rare genetic deficiency characterized by mutations in the SHOX gene and reduced expression or function of the SHOX protein. It results in the disruption of normal bone development and growth starting before birth. It manifests with skeletal abnormalities and short stature. A skeletal dysplasia due to mutation(s) in the promoter or coding regions of the SHOX gene, located in the pseudoautosomal regions of the X and Y chromosomes, and encoding short stature homeobox protein. This condition may result in reduced expression or function of the SHOX protein. The severity of the clinical features is dependent upon whether one or both copies of the gene are affected. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C120114 Acid-Labile Subunit Deficiency Acid-Labile Subunit Deficiency ALS Deficiency Reduced serum concentration of the acid-labile subunit (ALS, a protein encoded by the IGFALS gene) of the complex usually comprised of IGF-I, IGFBP-3 and ALS. Growth hormone insensitivity/resistance caused by loss-of-function mutation(s) in the IGFALS gene, encoding insulin-like growth factor-binding protein complex acid labile subunit protein (ALS). ALS forms a ternary complex with insulin-like growth factor I (IGF-I) and insulin-like growth factor-binding protein 3 (IGFBP-3), which prolongs the half life of both IGF-I and IGFBP-3 in the circulation. This condition is characterized by mild growth impairment, variable presence of pubertal delay in boys, and insulin insensitivity due to markedly reduced concentrations of free and total serum IGF-I and IGFBP-3. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C120115 Organic Growth Hormone Deficiency Organic Growth Hormone Deficiency Growth hormone deficiency due to an identifiable biological cause. Growth hormone deficiency due to an identifiable biological cause. C112835 Growth Hormone Deficiency C90259 NICHD Terminology C120143 Familial Male Precocious Puberty Familial Male Precocious Puberty Familial Testotoxicosis || Gonadotropin-independent Familial Sexual Precocity || Male-limited Precocious Puberty || Testotoxicosis Early development of isosexual secondary characteristics in boys, due to autosomal dominant mutations in the LHCGR gene. Early development of isosexual secondary characteristics in boys due to autosomal dominant mutations in the LHCGR gene. C36285 Endocrine System Finding C90259 NICHD Terminology C120144 P450-Aromatase Deficiency P450-Aromatase Deficiency Aromatase deficiency Deficiency of activity of the enzyme aromatase, which converts androgens to estrogens. Decreased activity of the steroidogenic enzyme, P450 aromatase, associated with mutation(s) in the CYP19A1 gene, resulting in reduced estrogen production. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C120146 Ovarian Hyperandrogenism Ovarian Hyperandrogenism Increased production of androgens by the ovaries. Increased production of androgens by the ovaries. C26841 Ovarian Disorder C90259 NICHD Terminology C120148 Pubertal Gynecomastia Pubertal Gynecomastia Transient Gynecomastia Gynecomastia that occurs during puberty and is not due to exogenous substances or disease processes. Gynecomastia that occurs during puberty and is not due to exogenous substances or disease processes. C36285 Endocrine System Finding C90259 NICHD Terminology C120160 Female Virilization Virilization in Girls Female Virilization The development of male secondary sexual characteristics (such as hirsutism, deepening of the voice, or clitoral enlargement) in girls or adult females. The development of male secondary sexual characteristics (such as hirsutism, deepening of the voice, or clitoral enlargement) in girls. C36285 Endocrine System Finding C90259 NICHD Terminology C120161 Congenital Hypergonadotropic Hypogonadism Congenital Hypergonadotropic Hypogonadism Ovarian or testicular dysfunction associated with high levels of gonadotropins, that is present at birth. Hypergonadotropic hypogonadism, the cause of which is present at birth. C9227 Hypogonadism C90259 NICHD Terminology C120162 Congenital Hypogonadotropic Hypogonadism Congenital Hypogonadotropic Hypogonadism Insufficient production of estrogen or testosterone in the ovaries or testes due to decreased secretion of gonadotropins as a result of pituitary or hypothalamus gland dysfunction that is present at birth. Hypogonadotropic hypogonadism, the cause of which is present at birth. C9227 Hypogonadism C90259 NICHD Terminology C120163 Pathological Gynecomastia Pathological Gynecomastia Breast Enlargement Gynecomastia that is due to exogenous substances or disease processes. Gynecomastia that is due to exogenous substances or disease processes. C36285 Endocrine System Finding C90259 NICHD Terminology C120164 Isolated Premature Menarche Premature Menarche Isolated Premature Menarche Occurrence of the first menstrual period in a girl before the lower limit of the normal age range for the reference population, without other signs of puberty. Menstrual bleeding before the expected age of menarche in the absence of physical signs of pubertal development. C36285 Endocrine System Finding C90259 NICHD Terminology C120165 Idiopathic Precocious Puberty Idiopathic Precocious Puberty Precocious puberty for which no underlying cause can be identified. Precocious puberty for which no underlying cause can be identified. C36285 Endocrine System Finding C90259 NICHD Terminology C120169 Neuroendocrine Cell Hyperplasia of Infancy Neuroendocrine Cell Hyperplasia of Infancy NEHI A form of interstitial lung disease characterized by increased numbers of pulmonary neuroendocrine cells, typically presenting in the first year of life with persistent tachypnea, retractions, crackles and hypoxemia that has a highly specific chest CT pattern that includes ground-glass opacities and air-trapping. A form of interstitial lung disease characterized by increased numbers of pulmonary neuroendocrine cells, typically presenting in the first year of life with persistent tachypnea, retractions, crackles and hypoxemia that has a highly specific chest CT pattern that includes ground-glass opacities and air-trapping. C26871 Respiratory System Disorder C89328 Pediatric Disorder C90259 NICHD Terminology C120187 Contrasexual Sexual Development Contrasexual Sexual Development The development of secondary sexual characteristics contrary to pre-pubertal phenotype (feminization in boys; virilization in girls). The development of secondary sexual characteristics contrary to pre-pubertal phenotype (feminization in boys; virilization in girls). C103186 Differences of Sex Development C90259 NICHD Terminology C120188 Persistent Mullerian Duct Syndrome Persistent Mullerian Duct Syndrome Hernia Uteri Inguinale The presence of Mullerian duct-derived structures in a phenotypically male individual. The presence of Mullerian duct-derived structures in a phenotypically male individual. C28193 Syndrome C90259 NICHD Terminology C120189 Persistent Mullerian Duct Syndrome Type I Persistent Mullerian Duct Syndrome Type 1 Anti-Mullerian Hormone Deficiency || Persistent Müllerian Duct Syndrome Type 1 Persistent Mullerian duct syndrome due to deficiency of anti-Mullerian hormone. Persistent Mullerian duct syndrome due to deficiency of anti-Mullerian hormone. C28193 Syndrome C90259 NICHD Terminology C120190 Persistent Mullerian Duct Syndrome Type II Persistent Mullerian Duct Syndrome Type 2 Anti-Mullerian Hormone Resistance Persistent Mullerian duct syndrome due to resistance to anti-Mullerian hormone (AMH), resulting from mutations in the AMH receptor (AMHR) gene. Persistent Mullerian duct syndrome due to resistance to anti-Mullerian hormone (AMH), resulting from mutations in the AMH receptor (AMHR) gene. C28193 Syndrome C90259 NICHD Terminology C120193 5-Alpha-Reductase Deficiency 5-Alpha-Reductase Deficiency Deficiency of 5-alpha-reductase type 2 in genital tissues resulting in reduced local concentration of dihydrotestosterone (DHT). Decreased 5-alpha-reductase type 2 in genital tissues resulting in reduced local concentration of dihydrotestosterone (DHT). C120206 Reductase Deficiency C90259 NICHD Terminology C120194 46,XY Disorder of Androgen Action 46,XY Disorder of Androgen Action Conditions in 46,XY individuals in which androgens are produced in typical amounts, but tissue response to androgens is reduced. Conditions in 46,XY individuals in which androgens are produced in typical amounts, but tissue response to androgens is reduced . C103186 Differences of Sex Development C90259 NICHD Terminology C120197 46,XX Gonadal Dysgenesis 46,XX Gonadal Dysgenesis 46,XX Ovarian Dysgenesis Gonadal dysgenesis in an individual with 46,XX karyotype and female phenotype. Gonadal dysgenesis in an individual with 46,XX karyotype and female phenotype. C103186 Differences of Sex Development C90259 NICHD Terminology C120198 46,XY Gonadal Dysgenesis 46,XY Gonadal Dysgenesis Swyer Syndrome Gonadal dysgenesis in an individual with 46.XY karyotype. Gonadal dysgenesis in an individual with 46,XY karyotype and female phenotype. There is an increased risk of gonadal tumor. C103186 Differences of Sex Development C90259 NICHD Terminology C120199 45,X/46,XY Mixed Gonadal Dysgenesis 45,X/46,XY Gonadal Dysgenesis 45,X/46,XY Disorder of Sex Development || 45,X/46,XY Mixed Gonadal Dysgenesis || Mixed Gonadal Dysgenesis A congenital condition characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY. 45,X/46,XY mosaic is the most common form of mixed gonadal dysgenesis. Gonadal dysgenesis in an individual with 45,X/46,XY mosaic karyotype with a variable phenotype. The gonads are dysgenetic and asymmetric, and can comprise elements of testicular tissue, ovarian tissue, streak gonad, or a combination, such as dysgenetic testis on one side and streak on the other. There is an increased risk of gonadal tumor. C103186 Differences of Sex Development C90259 NICHD Terminology C120200 Testicular Regression Testicular Regression Gonadal Regression || Vanishing Testes A condition characterized by typical male genital appearance in a 46,XY individual in whom testes are unable to be located. A condition characterized by typical male genital appearance in a 46,XY individual in whom testes are unable to be located. C26890 Testicular Disorder C90259 NICHD Terminology C120202 Placental Aromatase Deficiency Placental Aromatase Deficiency An autosomal recessive condition that results in aromatase deficiency in the placenta, causing temporary virilization of the pregnant woman and virilization of her 46,XX fetus. An autosomal recessive condition that results in decreased placental aromatase activity, causing temporary virilization of the pregnant woman and virilization of her 46,XX fetus. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C120203 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency 17 beta HSD3 Deficiency Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production. Decreased activity of the steroidogenic enzyme 17-beta-hydroxysteroid dehydrogenase, which is associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production. C3492 Enzyme Deficiency C90259 NICHD Terminology C120204 Defect in the Gene for MIS Type II Receptor Defect in the Gene for MIS Type 2 Receptor A defect in the MISR II gene. A defect in the MISR II gene. C3101 Genetic Disorder C90259 NICHD Terminology C120205 Acampomelic Campomelic Dysplasia Acampomelic Campomelic Dysplasia (AQ) A variant of campomelic dysplasia characterized by the absence of skeletal dysplasia. A variant of campomelic dysplasia characterized by the absence of skeletal dysplasia. C84609 Campomelic Dysplasia C90259 NICHD Terminology C120206 Reductase Deficiency Reductase Deficiency A deficiency in an enzyme that promotes reduction of an organic compound. A decrease in an enzyme that promotes reduction of an organic compound. C34816 Congenital Metabolic Disorder C3492 Enzyme Deficiency C90259 NICHD Terminology C120369 Acquired Hypogonadotropic Hypogonadism Acquired Hypogonadotropic Hypogonadism Hypogonadotropic hypogonadism, the cause of which is not present from birth. Hypogonadotropic hypogonadism, the cause of which is not present from birth. C9227 Hypogonadism C90259 NICHD Terminology C120370 Follicle Stimulating Hormone Receptor Deficiency Follicle Stimulating Hormone Receptor Deficiency FSH Receptor Deficiency Reduced or absent function of the receptor for follicle stimulating hormone associated with a mutation in the FSHR gene. A condition caused by a functional disturbance of the gonadotropin receptors in the ovarian follicles, which can result in primary or secondary amenorrhea, and which is resistant to exogenous gonadotropin stimulation. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C120371 Bio-Inactive Somatotropin Bio-Inactive Somatotropin Bio-inactive Growth Hormone Bio-inactive somatotropin is encoded by mutated forms of the human GH1 gene. This protein lacks biological activity and is associated with a phenotype of functional growth hormone deficiency. Growth hormone that lacks biological activity resulting in a phenotype of functional growth hormone deficiency. C36285 Endocrine System Finding C90259 NICHD Terminology C120372 Idiopathic Central Precocious Puberty Idiopathic Central Precocious Puberty Central precocious puberty for which no underlying cause can be identified. Central precocious puberty for which no underlying cause can be identified. C36285 Endocrine System Finding C90259 NICHD Terminology C120373 Sex Hormone-Binding Globulin Deficiency Sex Hormone-Binding Globulin Deficiency Subnormal concentration of the glycoprotein, sex hormone-binding globulin (SHBG), the primary transport protein for androgens and estrogens in serum, resulting in reduced concentrations of total sex steroids, but minimal change in concentrations of free sex steroids. Subnormal concentration of the glycoprotein sex hormone-binding globulin (SHBG), the primary transport protein for androgens and estrogens in serum, resulting in reduced concentrations of total sex steroids, but minimal change in concentrations of free sex steroids. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C120374 DAX1 Deficiency DAX1 Deficiency Cytomegalic Form of AHC || Dosage Sensitive Sex Reversal - Adrenal Hypoplasia Congenita Critical Region On The X Chromosome 1 Deficiency || Nuclear Receptor Subfamily 0 Group B Member 1 Deficiency Decreased activity of the nuclear receptor protein DAX1, caused by mutation(s) in the NR0B1 gene (on the X chromosome), resulting in adrenal hypoplasia congenita that may be associated with hypogonadotropic hypogonadism. Decreased activity of the nuclear receptor protein DAX1, caused by mutation(s) in the NR0B1 gene (on the X chromosome), resulting in adrenal hypoplasia congenita, which may be associated with hypogonadotropic hypogonadism. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C120375 Disorder of Androgen Synthesis Disorder of Androgen Synthesis Androgen Biosynthesis Defect An enzyme deficiency in the androgen biosynthesis pathway, resulting in the underproduction of one or more androgens by the adrenal glands and/or gonads. An enzyme deficiency in the androgen biosynthesis pathway, resulting in the underproduction of one or more androgens by the adrenal glands and/or gonads. C36285 Endocrine System Finding C90259 NICHD Terminology C120376 Mullerian Aplasia and Hyperandrogenism WNT4 Deficiency Mullerian Aplasia and Hyperandrogenism Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina. Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence or underdevelopment of the uterus, and sometimes absence or underdevelopment of the vagina. C3009 Endocrine System Disorder C90259 NICHD Terminology C120377 Childhood Overweight Childhood Overweight A condition in which a child's body mass index (BMI) falls at or above the 85th percentile, but below the 95th percentile based on the normative values for the age and sex of the reference population. A condition in which a child's body mass index (BMI) falls at or above the 85th percentile, but below the 95th percentile based on the normative values for the age and sex of the reference population. C36285 Endocrine System Finding C90259 NICHD Terminology C120378 Iatrogenic Obesity Iatrogenic Obesity Obesity resulting from medical treatment or intervention. Obesity resulting from medical treatment or intervention. C3367 Finding C90259 NICHD Terminology C120379 Polygenic Obesity Polygenic Obesity Obesity associated with variations in multiple genes. Obesity associated with presumed variations in multiple genes. C3367 Finding C90259 NICHD Terminology C120380 Exogenous Obesity Exogenous Obesity Common Obesity || Simple Obesity Obesity caused by caloric intake greater than caloric expenditures. Obesity caused by caloric intake greater than caloric expenditures. C3367 Finding C90259 NICHD Terminology C120381 Central Obesity Central Obesity Central Adiposity || Truncal Obesity Obesity in which excess fat is accumulated primarily in the area of the abdomen. Obesity in which excess fat is accumulated primarily in the area of the abdomen. C3367 Finding C90259 NICHD Terminology C120382 Monogenic Obesity Monogenic Obesity Obesity associated with an identifiable mutation in a single gene. Obesity caused by an identifiable mutation in a single gene. C3367 Finding C90259 NICHD Terminology C120383 Melanocortin Pathway Defect Melanocortin Pathway Defects An abnormality in the biochemical pathway involving the melanocortins, a group of peptide hormones associated with anorexogenic signaling in the brain and hypothalamus. An abnormality in the biochemical pathway involving the melanocortins, a group of peptide hormones associated with anorexogenic signaling in the brain stem and hypothalamus. C3101 Genetic Disorder C90259 NICHD Terminology C120384 Leptin Deficiency Leptin Deficiency Deficiency of the adipose tissue-derived peptide hormone leptin, associated with loss-of-function mutation(s) in the LEP gene. Deficiency of the adipose tissue-derived peptide hormone leptin, which is associated with loss-of-function mutation(s) in the LEP gene. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C120385 Brain-Derived Neurotropic Factor Deficiency Brain-Derived Neurotropic Factor Deficiency Presumed deficiency of brain-derived neurotropic factor (BDNF), associated with loss-of-function mutation(s) in the BDNF gene. Presumed deficiency of brain-derived neurotropic factor (BDNF), associated with loss-of-function mutation(s) in the BDNF gene. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C120386 Leptin Receptor Deficiency Leptin Receptor Deficiency Deficiency or dysfunction of the leptin receptor associated with loss-of-function mutation(s) in the LEPR gene. Deficiency or dysfunction of the leptin receptor, which is associated with loss-of-function mutation(s) in the LEPR gene. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C120393 Pro-Opiomelanocortin Deficiency Pro-Opiomelanocortin Deficiency POMC Deficiency Deficiency of the hormone precursor, pro-opiomelanocortin, associated with loss-of-function mutation(s) in the POMC gene. Deficiency of the hormone precursor pro-opiomelanocortin, which is associated with loss-of-function mutation(s) in the POMC gene. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C120394 Melanocortin 4 Receptor Deficiency Melanocortin 4 Receptor Deficiency MC4R Deficiency Deficiency or dysfunction of the melanocortin 4 receptor, associated with loss-of-function mutation(s) in the MCFR4 gene. Deficiency or dysfunction of the melanocortin 4 receptor, associated with loss-of-function mutation(s) in the MCR4 gene. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C120406 Neurotropic Tyrosine Kinase Receptor Type 2 Deficiency Neurotrophic Tyrosine Kinase, Receptor Type 2 Deficiency NTKR2 Deficiency || Receptor Tyrosine Kinase B || TRKB Deficiency Deficiency or dysfunction of the type 2 receptor for neurotropic tyrosine kinase associated with loss-of-function mutation(s) in the NTKR2 gene. Presumed loss-of-function mutation(s) in the NTKR2 gene, resulting in deficiency or dysfunction of the type 2 receptor for the enzyme neurotropic tyrosine kinase. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C120407 Prohormone Convertase 1 Deficiency Prohormone Convertase 1 Deficiency PCSK1 Deficiency || Prohormone Convertase 1/3 Deficiency Deficiency or dysfunction of the enzyme prohormone convertase 1 associated with loss-of-function mutation(s) in the PCSK1 gene. Presumed loss-of-function mutation(s) in the PCSK1 gene, resulting in decreased activity of the enzyme prohormone convertase 1. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C120408 Chromosome 16p11.2 Deletion Syndrome Chromosome 16p11.2 Deletion Syndrome A microdeletion at 16p11.2, characterized by a predisposition to obesity, developmental delay and autism spectrum disorders. A microdeletion at 16p11.2, characterized by a predisposition to obesity, developmental delay, and autism spectrum conditions. C28193 Syndrome C90259 NICHD Terminology C120409 Maternal Uniparental Disomy Chromosome 14 Syndrome Maternal Uniparental Disomy Chromosome 14 Syndrome Temple Syndrome || mUPD14 Syndrome A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father. A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother and no copy of chromosome 14 from the father. C28193 Syndrome C90259 NICHD Terminology C120433 Adrenocorticotropic Hormone Deficiency Adrenocorticotropic Hormone Deficiency ACTH Deficiency || Corticotropin Deficiency Subnormal concentration of adrenocorticotropic hormone (ACTH) resulting in decreased secretion of cortisol by the adrenal gland. Central hypoadrenalism due to subnormal concentration of adrenocorticotropic hormone (ACTH); the origin of the ACTH deficiency (hypothalamic vs. pituitary dysfunction) is difficult to determine. C36285 Endocrine System Finding C90259 NICHD Terminology Secondary Adrenal Insufficiency || Secondary Hypoadrenalism C120434 Acquired Adrenocorticotropic Hormone Deficiency Acquired Adrenocorticotropic Hormone Deficiency Acquired ACTH Deficiency Adrenocorticotropic hormone (ACTH) deficiency, the cause of which is not present at birth. Adrenocorticotropic hormone (ACTH) deficiency, the cause of which is not present at birth. C36285 Endocrine System Finding C90259 NICHD Terminology C120437 Congenital Isolated Adrenocorticotropic Hormone Deficiency Congenital Isolated Adrenocorticotropic Hormone Deficiency Congenital Isolated ACTH Deficiency Adrenocorticotropic hormone (ACTH) deficiency due to mutation(s) in the TBX19 gene. Adrenocorticotropic hormone (ACTH) deficiency due to mutation(s) in the TBX19 gene. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C120442 Acquired Central Hypothyroidism Acquired Central Hypothyroidism Central hypothyroidism, the cause of which is not present at birth. Central hypothyroidism, the cause of which is not present at birth. C26800 Hypothyroidism C90259 NICHD Terminology C120446 Isolated Glucocorticoid Deficiency Isolated Glucocorticoid Deficiency Abnormally low or absent production of glucocorticoids, characterized by unresponsiveness to adrenocorticotropic hormone. It is hereditary and potentially lethal. Abnormally low or absent production of glucocorticoids, characterized by unresponsiveness to adrenocorticotropic hormone. It is hereditary and potentially lethal. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C120449 Congenital Isolated Thyroid Stimulating Hormone Deficiency Congenital Isolated Thyroid Stimulating Hormone Deficiency Congenital Isolated TSH Deficiency Thyroid stimulating hormone (TSH) deficiency associated with mutations(s) in the TSHB gene that encodes thyrotropin subunit beta. Thyroid stimulating hormone (TSH) deficiency associated with mutation(s) in the TSHB gene that encodes thyrotropin subunit beta . C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C120887 Glomerulopathy Glomerulopathy Chronic degenerative changes in the glomeruli characterized by loss of cellularity of glomerular capillary tufts and acellular deposition of immunoglobulins. Disorders affecting the glomerulus, including inflammatory and non-inflammatory conditions. C34843 Nephropathy C90259 NICHD Terminology C120888 Glomerulosclerosis Glomerulosclerosis A hardening of the kidney glomerulus caused by scarring of the blood vessels. Global or segmental scarring of the glomerulus. C34843 Nephropathy C90259 NICHD Terminology C120893 Hypoplasia Hypoplasia Incomplete or underdevelopment of a tissue or organ. Incomplete or underdevelopment of a tissue or organ. C3367 Finding C90259 NICHD Terminology C120902 Obstructive Nephropathy Obstructive Nephropathy Renal damage and impaired renal function secondary to urinary tract obstruction. Nephropathy that is caused by an impediment to flow in the urinary tract. C34843 Nephropathy C90259 NICHD Terminology C120905 Reflux Nephropathy Reflux Nephropathy Chronic kidney damage due to vesicoureteral reflux. Nephropathy associated with retrograde flow of urine into the kidney. C34843 Nephropathy C90259 NICHD Terminology C121140 Hypoprolactinemia Prolactin Deficiency Hypoprolactinemia Subnormal concentration of prolactin. Subnormal concentration of prolactin. C36285 Endocrine System Finding C90259 NICHD Terminology Lactogenic Hormone Deficiency C121141 Follicle Stimulating Hormone Deficiency Follicle Stimulating Hormone Deficiency FSH Deficiency Subnormal concentration of follicle stimulating hormone. Subnormal concentration of follicle stimulating hormone. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C121142 Isolated Follicle Stimulating Hormone Deficiency Isolated Follicle Stimulating Hormone Deficiency Subnormal concentration of follicle stimulating hormone (FSH), associated with mutations in the FSHB gene, encoding follitropin subunit beta. Subnormal concentration of follicle stimulating hormone (FSH), which is associated with mutations in the FSHB gene, encoding follitropin subunit beta. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C121146 Pituitary Stalk Lesion Pituitary Stalk Lesion An anomaly in the pituitary stalk that can be developmental, inflammatory, infiltrative, iatrogenic or traumatic. An anomaly in the pituitary stalk that can be developmental, inflammatory, infiltrative, iatrogenic, or traumatic. C36285 Endocrine System Finding C90259 NICHD Terminology C121147 Hypophysitis Hypophysitis An inflammatory process in the pituitary gland. An inflammatory process in the pituitary gland. C36285 Endocrine System Finding C90259 NICHD Terminology C121148 Pituitary Abscess Pituitary Abscess An inflammatory or infectious process in the pituitary gland characterized by a circumscribed, walled collection of purulent material. An inflammatory or infectious process in the pituitary gland characterized by a circumscribed, walled collection of purulent material. C36285 Endocrine System Finding C90259 NICHD Terminology C121150 Pituitary Stalk Interruption Syndrome Pituitary Stalk Interruption Syndrome Hypoplastic Anterior Pituitary, Missing Stalk, and Ectopic Posterior Pituitary || PSIS A syndrome characterized by hypoplastic or aplastic anterior pituitary gland, a very thin or interrupted pituitary stalk, and ectopic or absent posterior pituitary gland, which may be associated with mutation(s) in the HESX1 or LHX4 genes. A syndrome characterized by hypoplastic or aplastic anterior pituitary gland, a very thin or interrupted pituitary stalk, and ectopic or absent posterior pituitary gland, which may be associated with mutation(s) in the HESX1 or LHX4 genes. C28193 Syndrome C90259 NICHD Terminology C121151 Ectopic Posterior Pituitary Ectopic Posterior Pituitary Ectopic Neurohypophysis Atypically located posterior pituitary gland that may be associated with anterior or posterior pituitary hormone deficiencies. Atypically located posterior pituitary gland that may be associated with anterior or posterior pituitary hormone deficiencies. C36285 Endocrine System Finding C90259 NICHD Terminology C121152 FSH-Producing Gonadotroph Adenoma Follicle Stimulating Hormone-Producing Adenoma FSH-producing Adenoma An adenoma of the anterior lobe of the pituitary gland that produces follicle-stimulating hormone (FSH). A non-malignant pituitary tumor that produces follicle stimulating hormone. C45915 Gonadotropin-Producing Adenoma C90259 NICHD Terminology C121153 LH-Producing Gonadotroph Adenoma LH-producing Adenoma || Luteinizing Hormone-Producing Adenoma An adenoma of the anterior lobe of the pituitary gland that produces luteinizing hormone (LH). A non-malignant pituitary tumor that produces luteinizing hormone. C45915 Gonadotropin-Producing Adenoma C90259 NICHD Terminology C121156 Mesomelic Dysplasia Mesomelic Dysplasias Mesomelic Dysplasia A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae). A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e. the radii, ulnae, tibiae and fibulae). C3101 Genetic Disorder C90259 NICHD Terminology C121198 Congenital Nephrotic Syndrome - Diffuse Mesangial Sclerosis Congenital Nephrotic Syndrome - Diffuse Mesangial Sclerosis Diffuse Mesangial Sclerosis Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis. Nephrotic syndrome within the first 3 months of life that is initially characterized by increased mesangial matrix, with or without hypertrophy, hyperplasia of podocytes, and, eventually, glomerular sclerosis. C35337 Congenital Nephrotic Syndrome C90259 NICHD Terminology C121200 Congenital Nephrotic Syndrome - Focal Segmental Glomerulosclerosis Congenital Nephrotic Syndrome - Focal Segmental Glomerulosclerosis Congenital FSGS Nephrotic syndrome within the first three months of life, characterized by scarring of the glomerulus, in which only part of the glomerulus is involved, and less than 50% of the glomeruli are affected. Nephrotic syndrome diagnosed within the first 3 months of life that is characterized by partial scarring of the glomerulus, with fewer than 50% of glomeruli affected. C35337 Congenital Nephrotic Syndrome C90259 NICHD Terminology C121209 Denys-Drash Syndrome, Incomplete Denys-Drash Syndrome, Incomplete Condition comprising congenital nephrotic syndrome with associated WT1 gene mutation with either intersex disorder or Wilms tumor. A condition comprised by congenital nephrotic syndrome coupled with either developmental sex disorder or Wilms tumor, and which is associated with mutation(s) in the WT1 gene. C84668 Denys-Drash Syndrome C90259 NICHD Terminology C121210 IgA Nephropathy, Liver Disease-associated IgA Nephropathy, Liver Disease-associated IgA nephropathy secondary to hepatobiliary disease. IgA nephropathy secondary to hepatobiliary disease. C34643 IgA Nephropathy C90259 NICHD Terminology C121321 Chloroquine Compound Chloroquine Compound A pharmaceutical agent initially used to cure or prevent malaria. A principal rheumatologic indication is the treatment of autoimmune disease including dermatomyositis, lupus, rheumatoid arthritis, and Sjogren syndrome. A pharmaceutical agent initially used to cure or prevent malaria. A principal rheumatologic indication is the treatment of autoimmune disease including dermatomyositis, lupus, rheumatoid arthritis, and Sjogren syndrome. C1909 Pharmacologic Substance C90259 NICHD Terminology C121322 Anti-Ro Antibody Anti-Ro Antibody Anti-SSA/Ro Antibody An antinuclear antibody directed against 52 or 60 kDa RNA-binding proteins in the nucleus. They can be associated with multiple autoimmune disorders, primarily Sjogren syndrome and system lupus erythematosus. Maternal anti-Ro antibody positivity can be associated with neonatal lupus. An antinuclear antibody directed against 52 or 60 kDa RNA-binding proteins in the nucleus. They can be associated with multiple autoimmune disorders, primarily Sjogren syndrome and system lupus erythematosus. Maternal anti-Ro antibody positivity can be associated with neonatal lupus. C16295 Antibody C90259 NICHD Terminology C121323 Anti-La Antibody Anti-La Antibody Anti-SSB/La Antibody An antinuclear antibody directed against a 47 kDa RNA-binding protein in the nucleus. They can be associated with Sjogren syndrome and system lupus erythematosus. Maternal anti-La antibody positivity can be associated with neonatal lupus. An antinuclear antibody directed against a 47 kDa RNA-binding protein in the nucleus. They can be associated with Sjogren syndrome and system lupus erythematosus. Maternal anti-La antibody positivity can be associated with neonatal lupus. C16295 Antibody C90259 NICHD Terminology C121324 Anti-Smith Antibody Anti-Smith Antibody Anti-Sm Antibody An antinuclear antibody directed against small nuclear ribonucleoproteins (snRNPs), that is highly specific, but has poor sensitivity for systemic lupus erythematosus (SLE). Presence of anti-Sm antibodies are associated with central nervous system, kidney, lung and cardiac involvement in SLE, but are not indicative of disease activity. An antinuclear antibody directed against small nuclear ribonucleoproteins (snRNPs), that is highly specific, but has poor sensitivity for systemic lupus erythematosus (SLE). Presence of anti-Sm antibodies are associated with central nervous system, kidney, lung and cardiac involvement in SLE, but are not indicative of disease activity. C16295 Antibody C90259 NICHD Terminology C121325 Anti-Ribonucleoprotein Antibody Anti-Ribonucleoprotein Antibody Anti-RNP Antibody An antinuclear antibody directed against U1 snRNP, that is strongly associated with mixed connective tissue disease and commonly detected in lupus. An antinuclear antibody directed against U1 snRNP, that is strongly associated with mixed connective tissue disease and commonly detected in lupus. C16295 Antibody C90259 NICHD Terminology C121326 Cyclic Citrullinated Peptide Antibody Cyclic Citrullinated Peptide Antibody ACPA || Anti-Keratin Antibody || Anti-Perinuclear Factor Antibody || CCP An autoantibody directed against peptides or proteins whose arginine residues have been enzymatically converted to citrulline. It is often associated with rheumatoid arthritis. An autoantibody directed against peptides or proteins whose arginine residues have been enzymatically converted to citrulline. It is often associated with rheumatoid arthritis. C16295 Antibody C90259 NICHD Terminology C121327 Antiphospholipid Antibody Antiphospholipid Antibody APLA A class of autoantibodies directed against phospholipids or phospholipoproteins. Its presence may indicate an increased risk for hypercoagulability, pregnancy loss or autoimmune disease. A class of autoantibodies directed against phospholipids or phospholipoproteins. Its presence may indicate an increased risk for hypercoagulability, pregnancy loss or autoimmune disease. C16295 Antibody C90259 NICHD Terminology C121328 Anti-Beta-2 Glycoprotein 1 Antibody Anti-Beta-2 Glycoprotein 1 Antibody AAHA || AB2GP || Anti-Apolipoprotein H || Anti-Apolipoprotein H Antibody || Anti-B2GP1 || Anti-Beta-2 Glycoprotein I Antibody An antiphospholipid autoantibody that reacts with beta-2-glycoprotein 1, and a member of family of autoantibodies that cause antiphospholipid antibody syndrome and may be found in system lupus erythematosus. An antiphospholipid autoantibody that reacts with beta-2-glycoprotein 1, and a member of family of autoantibodies that cause antiphospholipid antibody syndrome and may be found in system lupus erythematosus. C16295 Antibody C90259 NICHD Terminology C121329 Childhood Health Assessment Questionnaire Childhood Health Assessment Questionnaire C-HAQ || CHAQ A pediatric modification of the Stanford Health Assessment Questionnaire (HAQ) used in the evaluation of functional disability and discomfort in children. A pediatric modification of the Stanford Health Assessment Questionnaire (HAQ) used in the evaluation of functional disability and discomfort in children. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121330 Child Health Questionnaire Child Health Questionnaire CHQ A collection of general quality of life surveys that measures physical and psychosocial concepts in children. A collection of general quality of life surveys that measures physical and psychosocial concepts in children. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121331 Intravenous Immunoglobulin Therapy Intravenous Immunoglobulin Gamma Globulin || IVIG || Immune Globulin The administration of a blood product derived from pooled IgG antibodies extracted from donor plasma delivered intravenously. It is used to treat multiple disorders, including immunodeficiencies, autoimmune disorders, and active infections. The administration of a blood product derived from pooled IgG antibodies extracted from donor plasma delivered intravenously. It is used to treat multiple disorders, including immunodeficiencies, autoimmune disorders, and active infections. C15986 Drug Therapy C90259 NICHD Terminology C121332 Disease-Modifying Antirheumatic Drug Disease-Modifying Antirheumatic Drug DMARD A pharmaceutical agent that is categorized by its ability to alter the progression of autoimmune disease. A pharmaceutical agent that is categorized by its ability to alter the progression of autoimmune disease. C1909 Pharmacologic Substance C90259 NICHD Terminology C121333 Non-Biologic Disease-Modifying Antirheumatic Drug Non-Biologic Disease-Modifying Antirheumatic Drug Non-Biologic DMARD A drug used to alter the progression of autoimmune disease that is not a biologic. A drug used to alter the progression of autoimmune disease that is not a biologic. C121332 Disease-Modifying Antirheumatic Drug C90259 NICHD Terminology C121334 Biologic Disease-Modifying Antirheumatic Drug Biologic Disease-Modifying Antirheumatic Drug Biologic DMARD A biologic used to alter the progression of autoimmune disease. A biologic used to alter the progression of autoimmune disease. C121332 Disease-Modifying Antirheumatic Drug C90259 NICHD Terminology C121335 International Myositis Assessment and Clinical Studies Group International Myositis Assessment and Clinical Studies Group IMACS A coalition of health care providers and researchers with experience and interest in the myositis syndromes. (adapted from NIEHS website) A coalition of health care providers and researchers with experience and interest in the myositis syndromes. (adapted from NIEHS website) C20993 Clinical Assessment Tool C90259 NICHD Terminology C121336 American College of Rheumatology Classification Criteria for Systemic Lupus Erythematosus American College of Rheumatology Classification Criteria for Systemic Lupus Erythematosus ACR Classification Criteria for SLE The classification of systemic lupus erythematosus based on eleven criteria. Intended to be used as inclusion criteria for clinical studies, a person is defined as having systemic lupus erythematosus if any four or more of the eleven criteria are present, serially or simultaneously, during any interval of observation. The classification of systemic lupus erythematosus based on eleven criteria. Intended to be used as inclusion criteria for clinical studies, a person is defined as having systemic lupus erythematosus if any four or more of the eleven criteria are present, serially or simultaneously, during any interval of observation. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121337 Systemic Lupus International Collaborating Clinics Classification Criteria Systemic Lupus International Collaborating Clinics Classification Criteria SLICC Criteria || Systemic Lupus International Collaborating Clinics Classification Criteria for Systemic Lupus Erythematosus A validated revision of American College of Rheumatology (ACR) criteria for systemic lupus erythematosus with extension to seventeen criteria. Intended to be used as inclusion criteria for clinical studies, if the patient has biopsy-proven lupus nephritis with antinuclear antibodies (ANA) or anti-dsDNA, or the patient satisfies four of the criteria, including at least one clinical and one immunologic criterion. A validated revision of American College of Rheumatology (ACR) criteria for systemic lupus erythematosus with extension to seventeen criteria. Intended to be used as inclusion criteria for clinical studies, if the patient has biopsy-proven lupus nephritis with antinuclear antibodies (ANA) or anti-dsDNA, or the patient satisfies four of the criteria, including at least one clinical and one immunologic criterion. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121338 International League of Associations for Rheumatology Classification Criteria for Juvenile Idiopathic Arthritis International League of Associations for Rheumatology Classification Criteria for Juvenile Idiopathic Arthritis ILAR Classification Criteria for JIA A set of criteria used to assign children with chronic arthritis to one of the seven mutually exclusive categories of juvenile idiopathic arthritis (JIA), intended to be used for research purposes. A set of criteria used to assign children with chronic arthritis to one of the seven mutually exclusive categories of juvenile idiopathic arthritis (JIA), intended to be used for research purposes. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121339 European League Against Rheumatism Classification Criteria for Juvenile Chronic Arthritis European League Against Rheumatism Classification Criteria for Juvenile Chronic Arthritis EULAR Classification Criteria for Juvenile Chronic Arthritis A set of antiquated criteria used to assign children with chronic arthritis to one of six mutually exclusive categories. A set of antiquated criteria used to assign children with chronic arthritis to one of six mutually exclusive categories. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121340 American College of Rheumatology Classification Criteria for Juvenile Rheumatoid Arthritis American College of Rheumatology Classification Criteria for Juvenile Rheumatoid Arthritis ACR Classification Criteria for JRA A set of antiquated criteria used to assign children with chronic arthritis to one of the three mutually exclusive categories. A set of antiquated criteria used to assign children with chronic arthritis to one of the three mutually exclusive categories. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121341 American College of Rheumatology Pediatric Core Set for Juvenile Arthritis American College of Rheumatology Pediatric Core Set for Juvenile Arthritis ACR Pediatric Core Set for Juvenile Arthritis A set of criteria used to assess clinical response (improvement) or worsening (flare), in juvenile idiopathic arthritis clinical trials. A set of criteria used to assess clinical response (improvement) or worsening (flare), in juvenile idiopathic arthritis clinical trials. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121342 Pediatric Vasculitis Activity Score Pediatric Vasculitis Activity Score PVAS A set of criteria used to determine the activity of childhood vasculitis. A set of criteria used to determine the activity of childhood vasculitis. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121343 Birmingham Vasculitis Activity Score Birmingham Vasculitis Activity Score BVAS A set of criteria used to determine the activity of vasculitis. A set of criteria used to determine the activity of vasculitis. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121344 Childhood Myositis Assessment Scale Childhood Myositis Assessment Scale CMAS An observational performance-based instrument developed to evaluate muscle strength, physical function, and endurance in children with juvenile idiopathic inflammatory myopathy. An observational performance-based instrument developed to evaluate muscle strength, physical function, and endurance in children with juvenile idiopathic inflammatory myopathy. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121345 Patient-Reported Outcomes Measurement Information System Measures Patient-Reported Outcomes Measurement Information System Measures PROMIS Measures Psychometrically validated measures designed for precise and efficient self-report measurement of physical, mental, and social health across chronic conditions. Items can be administered in static (short-form) or dynamic form (as computer adaptive tests). Psychometrically validated measures developed using item response theory and designed for precise and efficient self-report measurement of physical, mental, and social health across chronic conditions. Items can be administered in static (short-form) or dynamic form (as computer adaptive tests). C20993 Clinical Assessment Tool C90259 NICHD Terminology C121346 Physician Global Assessment of Disease Activity Physician Global Assessment of Disease Activity MD Global || PGA || Physician's Global Assessment A physician or clinician-scored instrument that estimates the level of activity of a disease at a given time taking into account all disease manifestations. Typically scored on a numeric rating scale or visual analogue scale, or may be recorded using descriptors such as remission, or low, moderate, or high disease activity. A physician or clinician-scored instrument that estimates the level of activity of a disease at a given time taking into account all disease manifestations. Typically scored on a numeric rating scale or visual analogue scale, or may be recorded using descriptors such as remission, or low, moderate, or high disease activity. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121347 Parent Global Assessment of Disease Activity Parent Global Assessment of Disease Activity A parent-scored instrument that estimates the level of activity of a disease at a given time taking into account all disease manifestations. Typically scored on a numeric rating scale or visual analogue scale, or may be recorded using descriptors such as remission, or low, moderate, or high disease activity. A parent-scored instrument that estimates the level of activity of a disease at a given time taking into account all disease manifestations. Typically scored on a numeric rating scale or visual analogue scale, or may be recorded using descriptors such as remission, or low, moderate, or high disease activity. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121348 Parent Assessment of Overall Well-Being Parent Assessment of Overall Well-Being Parent Global Assessment A parent's estimation of the overall impact of a disease on their child at a given time. Typically scored on a numeric rating scale or visual analogue scale. A parent's estimation of the overall impact of a disease on their child at a given time. Typically scored on a numeric rating scale or visual analogue scale. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121349 Patient Global Assessment of Disease Activity Patient Global Assessment of Disease Activity A patient-scored instrument that estimates the level of activity of a disease at a given time taking into account all disease manifestations. Typically scored on a numeric rating scale or visual analogue scale, or may be recorded using descriptors such as remission, or low, moderate, or high disease activity. A patient-scored instrument that estimates the level of activity of a disease at a given time taking into account all disease manifestations. Typically scored on a numeric rating scale or visual analogue scale, or may be recorded using descriptors such as remission, or low, moderate, or high disease activity. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121350 Patient Assessment of Overall Well-Being Patient Assessment of Overall Well-Being Patient Global Assessment A patient's estimation of the overall impact of a disease on him or herself at a given time. Typically scored on a numeric rating scale or visual analogue scale. A patient's estimation of the overall impact of a disease on him or herself at a given time. Typically scored on a numeric rating scale or visual analogue scale. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121351 Occupational Therapy Occupational Therapy OT Interventions and exercises intended to develop, recover, or maintain the ability of an individual to accomplish their activities of daily living. Interventions and exercises intended to develop, recover, or maintain the ability of an individual to accomplish their activities of daily living. C49236 Therapeutic Procedure C90259 NICHD Terminology C121352 British Isles Lupus Assessment Group Index British Isles Lupus Assessment Group Index BILAG Index An organ-specific assessment intended as a clinical decision tool. It evaluates specific manifestations over the previous four weeks in a total of eight organs systems, nine in the revised Index: constitutional, mucocutaneous, neuropsychiatric, musculoskeletal, cardiorespiratory, gastrointestinal, ophthalmic, renal, and hematological. Activity in each organ system is scored from most active disease to no previous activity. An organ-specific assessment intended as a clinical decision tool. It evaluates specific manifestations over the previous four weeks in a total of eight organs systems, nine in the revised Index: constitutional, mucocutaneous, neuropsychiatric, musculoskeletal, cardiorespiratory, gastrointestinal, ophthalmic, renal, and hematological. Activity in each organ system is scored from most active disease to no previous activity. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121353 Systemic Lupus International Collaborating Clinics/American College of Rheumatology-Damage Index Systemic Lupus International Collaborating Clinics/American College of Rheumatology-Damage Index SDI || SLICC/ACR Damage Index for SLE || SLICC/ACR-DI A clinical index used to measure accumulated organ damage from either the disease process or its sequelae, in twelve organ systems. The index scores damage regardless of cause. The definition of damage is an irreversible change in an organ or system that has occurred since the onset of systemic lupus erythematosus and is present for at least six months. A clinical index used to measure accumulated organ damage from either the disease process or its sequelae, in twelve organ systems. The index scores damage regardless of cause. The definition of damage is an irreversible change in an organ or system that has occurred since the onset of systemic lupus erythematosus and is present for at least six months. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121354 Juvenile Arthritis Disease Activity Score Juvenile Arthritis Disease Activity Score JADAS A continuous measure of disease activity in juvenile arthritis related to inflammation. This validated measure has established cut points of minimal disease activity, inactive disease and remission. A continuous measure of disease activity in juvenile arthritis related to inflammation. This validated measure has established cut points of minimal disease activity, inactive disease and remission. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121355 Bath Ankylosing Spondylitis Disease Activity Index Bath Ankylosing Spondylitis Disease Activity Index BASDAI A clinical index used to assess the activity of ankylosing spondylitis that has been validated in adults. A clinical index used to assess the activity of ankylosing spondylitis that has been validated in adults. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121356 Myositis Disease Activity Assessment Tool Myositis Disease Activity Assessment Tool MDAAT A tool that assesses disease activity of extramuscular organ systems and muscle to assess patients with adult and juvenile dermatomyositis, polymyositis, and inclusion body myositis. A tool that assesses disease activity of extramuscular organ systems and muscle to assess patients with adult and juvenile dermatomyositis, polymyositis, and inclusion body myositis. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121357 Myositis Damage Index Myositis Damage Index MDI A scoring system used to measure damage from myositis, complications of therapy, or other events. A scoring system used to measure damage from myositis, complications of therapy, or other events. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121358 Myositis Activities Profile Myositis Activities Profile MAP An assessment of disease-specific limitations of activities of daily living in patients with polymyositis and dermatomyositis. An assessment of disease-specific limitations of activities of daily living in patients with polymyositis and dermatomyositis. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121359 Cutaneous Dermatomyositis Disease Area and Severity Index Cutaneous Dermatomyositis Disease Area and Severity Index CDASI An instrument that measures activity and damage in the skin of dermatomyositis patients. An instrument that measures activity and damage in the skin of dermatomyositis patients. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121360 Manual Muscle Testing Manual Muscle Testing MMT A graded muscle strength measurement performed as part of a physical examination without the need for specialized equipment. A graded muscle strength measurement performed as part of a physical examination without the need for specialized equipment. C18020 Diagnostic Procedure C90259 NICHD Terminology C121361 Quantitative Muscle Testing Quantitative Muscle Testing QMT Measurement of maximum isometric force generation from a muscle group; performed with specialized equipment. Measurement of maximum isometric force generation from a muscle group; performed with specialized equipment. C18020 Diagnostic Procedure C90259 NICHD Terminology C121362 Cutaneous Assessment Tool Cutaneous Assessment Tool CAT An assessment of a wide range of cutaneous manifestations reflecting activity and damage from idiopathic inflammatory myopathy in children and adults. An assessment of a wide range of cutaneous manifestations reflecting activity and damage from idiopathic inflammatory myopathy in children and adults. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121363 Dermatomyositis Skin Severity Index Dermatomyositis Skin Severity Index DSSI An assessment of disease activity in the skin of patients with dermatomyositis. An assessment of disease activity in the skin of patients with dermatomyositis. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121364 Valentini Scleroderma Disease Activity Index Valentini Scleroderma Disease Activity Index Valentini SDAI A clinical index used to assess the activity of scleroderma that has been validated in adults. A clinical index used to assess the activity of scleroderma that has been validated in adults. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121365 Juvenile Spondyloarthritis Disease Activity Index Juvenile Spondyloarthritis Disease Activity Index JSpADA A set of criteria used to determine the activity of juvenile spondyloarthritis related to inflammation. A set of criteria used to determine the activity of juvenile spondyloarthritis related to inflammation. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121366 Intraarticular Corticosteroid Therapy Intraarticular Corticosteroid Intra-articular Corticosteroid Treatment with a corticosteroid formulation designed for and administered into a joint space. Treatment with a corticosteroid formulation designed for and administered into a joint space. C121367 Localized Corticosteroid C90259 NICHD Terminology C121367 Localized Corticosteroid Therapy Localized Corticosteroid Treatment with a corticosteroid formulation designed for delivery locally and specified by site of administration (intraarticular, topical, or inhaled). Treatment with a corticosteroid formulation designed for delivery locally and specified by site of administration (intraarticular, topical, or inhaled). C15986 Drug Therapy C90259 NICHD Terminology C121368 Stress Dose Steroid Therapy Stress Dose Steroid The administration of corticosteroids to an individual with either a long term history of corticosteroid use, or a history of or increased risk for adrenal insufficiency during times of increased physiological stress, including surgery or serious illness. The administration of corticosteroids to an individual with either a long term history of corticosteroid use, or a history of or increased risk for adrenal insufficiency during times of increased physiological stress, including surgery or serious illness. C15986 Drug Therapy C90259 NICHD Terminology C121546 Health Assessment Questionnaire Health Assessment Questionnaire HAQ || Stanford Health Assessment Questionnaire A comprehensive, self-report survey consisting of twenty questions intended as a functional measure of an individual's current ability to accomplish the activities of daily living. A comprehensive, self-report survey consisting of twenty questions intended as a functional measure of an individual's current ability to accomplish the activities of daily living. C20993 Clinical Assessment Tool C90259 NICHD Terminology C121556 Back Arching Back Arching A convex curvature of the spine that occurs when an individual thrusts forward the shoulders and pulls back the abdomen. A convex curvature of the spine that occurs when an individual thrusts forward the shoulders and pulls back the abdomen. C100104 Sign or Symptom C90259 NICHD Terminology C121557 Bloody Discharge Bloody Discharge Bloody Drainage The leaking of serosanguinous fluids from an orifice or wound. The leaking of serosanguinous fluids from an orifice or wound. C100104 Sign or Symptom C90259 NICHD Terminology C121558 Breath Holding Breath Holding Episodic apnea, which is more common in young children and usually resolves by age six. Episodic apnea, which is more common in young children and usually resolves by age six. C100104 Sign or Symptom C90259 NICHD Terminology C121560 Cat Bite Cat Bite A wound received from the teeth of a cat. A wound received from the teeth of a cat. C3671 Injury C90259 NICHD Terminology C121562 Cystic Fibrosis Pulmonary Exacerbation Cystic Fibrosis Pulmonary Exacerbation An acute episode of worsening pulmonary symptoms related to cystic fibrosis. An acute episode of worsening pulmonary symptoms related to cystic fibrosis. C26871 Respiratory System Disorder C90259 NICHD Terminology C121572 Complex Regional Pain Syndrome II Complex Regional Pain Syndrome II Causalgia A neurologic condition characterized by burning pain, tenderness, swelling, and changes in the skin color and temperature of a body part or extremity associated with demonstrable nerve injury. This form is less frequent in pediatric patients. A neurologic condition characterized by burning pain, tenderness, swelling, and changes in the skin color and temperature of a body part or extremity associated with demonstrable nerve injury. This form is less frequent in pediatric patients. C119048 Pain Amplification Syndrome C90259 NICHD Terminology C121574 Hypophagia Hypophagia Decreased Oral Intake || Poor Oral Intake Reduced ingestion of food. Reduced ingestion of food. C100104 Sign or Symptom C90259 NICHD Terminology C121577 Pulmonary Function Test Decreased Pulmonary Function Test Decreased A decrease in any of the parameters used to measure the mechanical function of the lungs and upper airway. A decrease in any of the parameters used to measure the mechanical function of the lungs and upper airway. C36292 Laboratory Test Result C90259 NICHD Terminology C121582 Drooling Drooling Saliva spilling out of the mouth. Saliva spilling from the mouth. C100104 Sign or Symptom C90259 NICHD Terminology C121588 Foreign Body Ingestion Foreign Body Ingestion The swallowing of an item not intended for consumption. The swallowing of an item not intended for consumption. C3671 Injury C90259 NICHD Terminology C121589 Central Line Complication Central Line Complication A problem with a central venous access catheter or site of insertion. A problem with a central venous access catheter or site of insertion. C78254 Device Complication C90259 NICHD Terminology C121604 Catheter-Related Inflammation Catheter-Related Inflammation Inflammation associated with the use of a catheter. Inflammation associated with the use of a catheter. C78254 Device Complication C90259 NICHD Terminology C121607 Central Line Infection Central Line Infection An infectious process related to a central venous catheter. An infectious process related to a central venous catheter. C26726 Infectious Disorder C90259 NICHD Terminology C121616 Wound Discharge Wound Discharge The material exuded from a wound, either surgical or traumatic. The material exuded from a wound, either surgical or traumatic. C100104 Sign or Symptom C90259 NICHD Terminology C121618 Germinomatous Germ Cell Tumor Germinomatous Germ Cell Tumor A term that refers to germinoma, seminoma, or dysgerminoma. A malignant germ cell tumor characterized by the presence of primitive, large germ cells and lymphocytes. These tumors (germinoma, seminoma, or dysgerminoma) are histologically identical, and are distinguished only by their location. C3708 Germ Cell Tumor C90259 NICHD Terminology C121619 Nongerminomatous Germ Cell Tumor Nongerminomatous Germ Cell Tumor Non-dysgerminomatous Germ Cell Tumor || Non-germinomatous Germ Cell Tumor || Non-seminomatous Germ Cell Tumor A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors. A germ cell tumor other than a pure germinoma. These tumors (choriocarcinoma, embryonal carcinoma, teratoma, yolk sac tumor, and mixed germ cell tumor) are histologically distinct from one another. C2934 Central Nervous System Disorder C90259 NICHD Terminology C121623 Aphagia Aphagia The inability or refusal to swallow. The inability or refusal to swallow. C100104 Sign or Symptom C90259 NICHD Terminology C121624 Agonal Respiration Agonal Respiration Gasping An abnormal breathing pattern originating from lower brainstem neurons and characterized by labored breaths, gasping, and, often, myoclonus and grunting. An abnormal breathing pattern originating from lower brainstem neurons and characterized by labored breaths, gasping, and, often, myoclonus and grunting. C100104 Sign or Symptom C90259 NICHD Terminology C121626 Airway Compromise Airway Compromise The inhibition of normal respiration by physical obstruction(s) to the airway. The inhibition of normal respiration by physical obstruction(s) to the airway. C100104 Sign or Symptom C90259 NICHD Terminology C121627 Altered Level of Consciousness Altered Level of Consciousness A level of awareness and arousal other than normal. A level of awareness and arousal other than normal. C100104 Sign or Symptom C90259 NICHD Terminology C121628 Altered Mental Status Altered Mental Status A change to an individual's judgment, orientation (to place, time, and self), intellectual functioning, or mood from their baseline. A change to an individual's judgment, orientation (to place, time, and self), intellectual functioning, or mood from their baseline. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C121629 Disturbance of Temperature Regulation Disturbance of Temperature Regulation Any condition characterized by an inability to regulate body temperature. Any condition characterized by an inability to regulate body temperature. C100104 Sign or Symptom C90259 NICHD Terminology C121630 Increased Respiratory Secretion Increased Respiratory Secretion Increased Respiratory Secretions An increase in respiratory secretions. An increase in respiratory secretions. C100104 Sign or Symptom C90259 NICHD Terminology C121650 Superficial Circumscribed Morphea Superficial Circumscribed Morphea Plaque Morphea Circumscribed morphea in which the lesions are restricted to the skin and the immediately underlying subcutaneous tissues. Circumscribed morphea in which the lesions are restricted to the skin and the immediately underlying subcutaneous tissues. C116784 Circumscribed Morphea C90259 NICHD Terminology C121651 Deep Circumscribed Morphea Deep Circumscribed Morphea Deep Morphea Circumscribed morphea in which the lesions are found in the deep dermis, panniculus, fascia, or superficial muscle. Circumscribed morphea in which the lesions are found in the deep dermis, panniculus, fascia, or superficial muscle. C116784 Circumscribed Morphea C90259 NICHD Terminology C121661 Intrusive Thought Intrusive Thought An unwelcome and persistent idea, image or thought that is upsetting to an individual. An unwelcome and persistent idea, image, or thought that is upsetting to an individual. C100104 Sign or Symptom C90259 NICHD Terminology C121669 Disordered Eating Disordered Eating Abnormal eating behaviors, including binge eating, compulsive eating, emotional eating, night eating, and self-induced vomiting, though not at a level that rises to the diagnosis of eating disorder. Abnormal eating behaviors, including binge eating, compulsive eating, emotional eating, night eating, and self-induced vomiting, though not at a level that rises to the diagnosis of eating disorder. C35470 Behavioral Disorder C90259 NICHD Terminology C121675 Rhizomelic Dysplasia Rhizomelic Dysplasia A form of skeletal dysplasia characterized by shortening of the bones of the proximal segments of the limbs (i.e. the humeri and femora). A form of skeletal dysplasia characterized by shortening of the bones of the proximal segments of the limbs (i.e. the humeri and femora). C3009 Endocrine System Disorder C90259 NICHD Terminology C121678 Non-Functioning Pituitary Gland Microadenoma Nonfunctional Pituitary Microadenoma A pituitary gland microadenoma not associated with a hormonal syndrome. A non-malignant pituitary tumor with diameter less than 10 millimeters that does not secrete pituitary hormone(s). C4348 Non-Functioning Pituitary Gland Adenoma C90259 NICHD Terminology C121679 Functioning Pituitary Gland Microadenoma Functional Pituitary Microadenoma A pituitary gland microadenoma associated with a hormonal syndrome. A non-malignant pituitary tumor with diameter less than 10 millimeters that secretes pituitary hormone(s). C3329 Pituitary Gland Adenoma C90259 NICHD Terminology C121719 Lymphocytic Neurohypophysitis Lymphocytic Neurohypophysitis An autoimmune condition affecting the posterior pituitary gland, which is characterized by lymphocytic infiltration, and which often presents as diabetes insipidus. An autoimmune condition affecting the posterior pituitary gland, which is characterized by lymphocytic infiltration, and which often presents as diabetes insipidus. C3009 Endocrine System Disorder C90259 NICHD Terminology C121720 Functioning Pituitary Gland Macroadenoma Functional Pituitary Macroadenoma A pituitary gland macroadenoma associated with a hormonal syndrome. A non-malignant pituitary tumor with diameter 10 millimeters or greater that secretes pituitary hormone(s). C3329 Pituitary Gland Adenoma C90259 NICHD Terminology C121721 Non-Functioning Pituitary Gland Macroadenoma Nonfunctional Pituitary Macroadenoma A pituitary gland macroadenoma not associated with a hormonal syndrome. A non-malignant pituitary tumor with diameter 10 millimeters or greater that does not secrete pituitary hormone(s). C4348 Non-Functioning Pituitary Gland Adenoma C90259 NICHD Terminology C121727 Compensated Hypothyroidism Compensated Hypothyroidism Hypothyroidism characterized by elevated thyroid-stimulating hormone (TSH) with normal circulating concentrations of thyroid hormones. Hypothyroidism characterized by elevated thyroid-stimulating hormone (TSH) with normal circulating concentrations of thyroid hormones. C26800 Hypothyroidism C90259 NICHD Terminology C121741 Hypothalamic Hypothyroidism Hypothalamic Hypothyroidism Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone. Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone. C26800 Hypothyroidism C90259 NICHD Terminology Tertiary Hypothyroidism C121743 Pituitary Hypothyroidism Pituitary Hypothyroidism Hypothyroidism due to dysfunction of the pituitary gland, which results in inadequate secretion of thyroid-stimulating hormone (thyrotropin). Hypothyroidism due to dysfunction of the pituitary gland, which results in inadequate secretion of thyroid-stimulating hormone (thyrotropin). C26800 Hypothyroidism C90259 NICHD Terminology C121745 Pendred Syndrome Pendred Syndrome A condition associated with reduced export of iodide across the apical membrane of the follicular cells of the thyroid gland that may progress to hypothyroidism. Pendred syndrome is associated with an increased risk of goiter and sensorineural hearing loss due to malformations of the inner ear (vestibular system). Inactivating mutations in the SLC26A4 gene encoding the pendrin transport protein are responsible for the condition. A condition associated with reduced export of iodide across the apical membrane of the follicular cells of the thyroid gland that may progress to hypothyroidism. Pendred syndrome is associated with an increased risk of goiter and sensorineural hearing loss due to malformations of the inner ear (vestibular system). Inactivating mutations in the SLC26A4 gene encoding the pendrin transport protein are responsible for the condition. C28193 Syndrome C90259 NICHD Terminology C121747 Iodide Transport Defect Iodide Transport Defect A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition. A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition. C3101 Genetic Disorder C90259 NICHD Terminology C121748 Dual Oxidase 2 Deficiency Dual Oxidase 2 Deficiency Thyroid peroxidase system defect due to presumed mutation(s) in the DUOX2 gene, resulting in decreased activity of dual oxidase 2. Thyroid peroxidase system defect due to presumed mutation(s) in the DUOX2 gene, resulting in decreased activity of dual oxidase 2. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C121749 Thyroglobulin Deficiency Thyroglobulin Deficiency Subnormal production of thyroglobulin, the glycoprotein precursor of thyroid hormones, presumed to result from loss-of-function mutation(s) in the TG gene. Subnormal production of thyroglobulin, the glycoprotein precursor of thyroid hormones, presumed to result from loss-of-function mutation(s) in the TG gene. C36285 Endocrine System Finding C90259 NICHD Terminology C121750 Thyroid Peroxidase Deficiency Thyroid Peroxidase Deficiency Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase. Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C121751 Thyroid Dyshormonogenesis Thyroid Dyshormonogenesis Dyshormonogenesis A defect in any step of the biochemical pathway leading to production of thyroid hormones. A defect in any step of the biochemical pathway leading to production of thyroid hormones. C36285 Endocrine System Finding C90259 NICHD Terminology C121944 Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome ROHHAD A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin. A syndrome of unknown etiology characterized by hypothalamic dysfunction with hyperphagia, inability to maintain normal water balance, growth hormone deficiency, hypothyroidism, early or late puberty, increased prolactin concentration, hypoventilation, and autonomic dysfunction. C28193 Syndrome C90259 NICHD Terminology C121974 Ph-Like Acute Lymphoblastic Leukemia Philadelphia-Like Acute Lymphoblastic Leukemia BCR-ABL1-like ALL || BCR-ABL1-like Acute Lymphoblastic Leukemia || Ph-Like Acute Lymphoblastic Leukemia || Ph-like ALL || Philadelphia-like ALL A leukemia subtype characterized by a gene-expression profile similar to that of BCR-ABL1-positive acute lymphoblastic leukemia, alterations of lymphoid transcription factor genes, and a poor outcome. A subtype of high risk B cell acute lymphoblastic leukemia (ALL) in which patients have a gene-expression profile similar to that of BCR-ABL1 positive ALL, but who all lack the BCR-ABL1 fusion gene. Similar to patients with BCR-ABL1 positive ALL, patients with Ph-like ALL frequently harbor alterations in lymphoid transcription factors. This is clinically important because of the presence of kinase-activating alterations that are amenable to treatment with currently available tyrosine kinase inhibitors. This subtype occurs in 10-15% of pediatric ALL patients and increases in frequency with age. C3167 Acute Lymphoblastic Leukemia C90259 NICHD Terminology C122078 Topical Corticosteroid Therapy Topical Corticosteroid Treatment with a corticosteroid formulation designed for and administered onto a dermal, ocular or mucosal surface. Treatment with a corticosteroid formulation designed for and administered onto a dermal, ocular or mucosal surface. C121367 Localized Corticosteroid C90259 NICHD Terminology C122080 Systemic Corticosteroid Therapy Systemic Corticosteroid Treatment with corticosteroids via a delivery method that will affect the entire body (oral, intramuscular, intravenous). Treatment with corticosteroids via a delivery method that will affect the entire body (oral, intramuscular, intravenous). C15986 Drug Therapy C90259 NICHD Terminology C12219 Anatomic Structure, System, or Substance Anatomic Structure, System, or Substance A human biological structure, fluid or other substance; excludes single molecular entities. C90259 NICHD Terminology C90259 NICHD Terminology C122408 Multiple Pulmonary Nodules Pulmonary Nodules Multiple, small, round or oval, benign or malignant growths in the lung(s), which can be due to infectious, inflammatory, or neoplastic processes. Multiple, small, round or oval, benign or malignant growths in the lung(s), which can be due to infectious, inflammatory, or neoplastic processes. C26871 Respiratory System Disorder C90259 NICHD Terminology C122409 Ostomy Site Pain Ostomy Site Pain Pain at the site of an ostomy. Pain at the site of an ostomy. C3303 Pain C90259 NICHD Terminology C122410 Absence of Bowel Movement Absence of Bowel Movement The lack of any bowel movements. The lack of any bowel movements. C100104 Sign or Symptom C90259 NICHD Terminology C122411 Scleral Icterus Scleral Icterus Yellowing of the white part of the eyes, often due to a rise in bilirubin levels. Yellowing of the white part of the eyes, often due to a rise in bilirubin levels. C26767 Eye Disorder C90259 NICHD Terminology C122412 Vaso-Occlusive Crisis Vaso-Occlusive Crisis An exacerbation of sickle cell disease. An exacerbation of sickle cell disease. C35117 Vascular Disorder C90259 NICHD Terminology C122413 Ulcerative Colitis Flare Ulcerative Colitis Flare An exacerbation of ulcerative colitis. An exacerbation of ulcerative colitis. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C122414 Autoimmune Encephalitis Autoimmune Encephalitis Inflammation of the brain secondary to an immune response triggered by the body itself. Inflammation of the brain secondary to an immune response triggered by the body itself. C2934 Central Nervous System Disorder C90259 NICHD Terminology C122416 Refusal to Bear Weight Refusal to Bear Weight A reluctance to place any body weight on a limb, which is most commonly secondary to pain or discomfort. A reluctance to place any body weight on a limb, which is most commonly secondary to pain or discomfort. C100104 Sign or Symptom C90259 NICHD Terminology C122419 Dog Bite Dog Bite A wound received from the teeth of a dog. A wound received from the teeth of a dog. C3671 Injury C90259 NICHD Terminology C122425 Port Site Infection Port Site Infection An infection at an anatomic location used for vascular access. An infection at an anatomic location used for vascular access. C26726 Infectious Disorder C90259 NICHD Terminology C122426 Acquired Cytomegaloviral Infection Acquired Cytomegaloviral Infection An infection with the Cytomegalovirus that is not present from birth. An infection with the Cytomegalovirus that is not present from birth. C3439 Viral Infection C90259 NICHD Terminology C122427 Congenital Cytomegaloviral Infection Congenital Cytomegaloviral Infection An infection with the Cytomegalovirus that is present from birth. An infection with the Cytomegalovirus that is present from birth. C96411 Pediatric Viral Infection C90259 NICHD Terminology C122430 Abnormal Behavior Abnormal Behavior Behavioral Disturbance || Not Acting Normal || Not Acting Self Conduct that is unusual for the individual. Conduct that is unusual for the individual. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C122435 Impaired Balance Impaired Balance Loss of Balance A deficit in equilibrium, which may manifest as unsteady ambulation or inability to maintain an upright position. A deficit in equilibrium, which may manifest as unsteady ambulation or inability to maintain an upright position. C100104 Sign or Symptom C90259 NICHD Terminology C122437 Positive Blood Culture Positive Blood Culture A laboratory test result demonstrating the presence of a specific organism in a blood sample after culture. A laboratory test result demonstrating the presence of a specific organism in a blood sample after culture. C36292 Laboratory Test Result C90259 NICHD Terminology C122438 Blood Urea Nitrogen Increased Blood Urea Nitrogen Increased Elevated Blood Urea Nitrogen Laboratory results demonstrating an increase in the concentration of urea nitrogen in a blood sample. Laboratory results demonstrating an increase in the concentration of urea nitrogen in a blood sample. C36292 Laboratory Test Result C90259 NICHD Terminology C122439 Dislodged Catheter Dislodged Catheter A catheter that has moved from its intended location. A catheter that has moved from its intended location. C122712 Medical Device Dislodged C90259 NICHD Terminology C122443 Coombs Test Positive Coombs Test Positive Positive Coombs Test A laboratory test result demonstrating the presence of antibodies that act against red blood cells. A laboratory test result demonstrating the presence of antibodies that act against red blood cells. C36292 Laboratory Test Result C90259 NICHD Terminology C122444 Decreased Physical Activity Decreased Physical Activity A reduction in the normal physical activity for an individual. A reduction in the normal physical activity for an individual. C100104 Sign or Symptom C90259 NICHD Terminology C122445 Feeding Tube Complication Feeding Tube Complication Any problem with a feeding tube or its site of insertion. Any problem with a feeding tube or its site of insertion. C78254 Device Complication C90259 NICHD Terminology C122470 Fistula Discharge Fistula Discharge Fistula Drainage The leakage of a substance from a fistula. The leakage of a substance from a fistula. C100104 Sign or Symptom C90259 NICHD Terminology C122478 Gait Unsteady Gait Unsteady A shaky or wobbly manner of walking. A shaky or wobbly manner of walking. C100104 Sign or Symptom C90259 NICHD Terminology C122507 Hemoglobin A1c Increased Hemoglobin A1c Increased A laboratory test result demonstrating an increase in the glycosylated hemoglobin in a blood sample. A laboratory test result demonstrating an increase in the glycosylated hemoglobin in a blood sample. C36292 Laboratory Test Result C90259 NICHD Terminology C122512 Ketonuria Ketonuria The presence of ketone bodies in the urine. The presence of ketone bodies in the urine. C36292 Laboratory Test Result C90259 NICHD Terminology C122513 Hyperlactemia Hyperlactemia Elevated Lactate Level Abnormally high level of lactate in the blood. Abnormally high concentration of lactate in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C122516 Abnormal Liver Function Test Abnormal Liver Function Test Atypical results found on serum liver enzyme testing, which may indicate significant disease and/or disease progression. Atypical results found on serum liver enzyme testing, which may indicate significant disease and/or disease progression. C36292 Laboratory Test Result C90259 NICHD Terminology C122523 Methicillin-Resistant Staphylococcus Aureus Pneumonia Methicillin-Resistant Staphylococcus aureus Pneumonia Pneumonia that is caused by Staphylococcus aureus and is resistant to methicillin treatment. Pneumonia that is caused by Staphylococcus aureus and is resistant to methicillin treatment. C2890 Bacterial Infection C90259 NICHD Terminology C122526 Mycoplasmal Pneumonia Mycoplasmal Pneumonia Pneumonia caused by Mycoplasma pneumoniae. Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain. Pneumonia caused by Mycoplasma pneumoniae. Signs and symptoms include productive cough, fever, chills, shortness of breath, and chest pain. C2890 Bacterial Infection C90259 NICHD Terminology C122527 Disrupted Suture Disrupted Suture Stitches Coming Loose The loss of tension or continuity of sutures. The loss of tension or continuity of sutures. C78254 Device Complication C90259 NICHD Terminology C122528 Violent Behavior Violent Behavior Any action that results in intimidation, harm, damage, or destruction of someone or something. Any action that results in intimidation, harm, damage, or destruction of someone or something. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C122529 Unresponsive to Stimuli Unresponsive to Stimuli An individual whose level of consciousness is such that he is not responsive to any stimulus. An individual whose level of consciousness is such that he is not responsive to any stimulus. C100104 Sign or Symptom C90259 NICHD Terminology C122572 Rhinovirus Infection Rhinovirus Infection An infectious process caused by rhinovirus. The virus usually causes upper respiratory infections, but can infect the lower tract as well. An infectious process caused by rhinovirus. The virus usually causes upper respiratory infections, but can infect the lower tract as well. C3439 Viral Infection C90259 NICHD Terminology C122573 Screaming Screaming A loud, vociferous cry or yell; it can be the result of many emotions, including pain, excitement, or fear. A loud, vociferous cry or yell; it can be the result of many emotions, including pain, excitement, or fear. C100104 Sign or Symptom C90259 NICHD Terminology C122574 Lupus Flare Lupus Flare An exacerbation of the chronic disease lupus. An exacerbation of the chronic disease lupus. C3507 Immune System Disorder C90259 NICHD Terminology C122575 Positive Herpes Simplex Virus Culture Positive Herpes Simplex Virus Culture Laboratory test results demonstrating the presence of the Herpes Simplex virus in a specimen. Laboratory test results demonstrating the presence of the Herpes Simplex virus in a specimen. C36292 Laboratory Test Result C90259 NICHD Terminology C122576 Staphylococcus Aureus Infection Staphylococcus aureus Infection An infectious process in which the bacteria Staphylococcus aureus is present. An infectious process in which the bacteria Staphylococcus aureus is present. C2890 Bacterial Infection C90259 NICHD Terminology C122577 Status Asthmaticus Status Asthmaticus An acute exacerbation of asthma, characterized by inadequate response to initial bronchodilators. An acute exacerbation of asthma, characterized by an inadequate response to the initial use of bronchodilators and the progressive worsening of bronchial obstruction and shortness of breath, which can result in the need for mechanical ventilation and/or possibly death. C26871 Respiratory System Disorder C90259 NICHD Terminology C122578 Throat Tightening Throat Tightening The sensation of constriction or contraction in the throat area. The sensation of constriction or contraction in the throat area. C100104 Sign or Symptom C90259 NICHD Terminology C122579 Phonophobia Phonophobia A fear of sounds, which can include fear of voices, including one's own voice, in addition to other sounds. A fear of sounds, which can include fear of voices, including one's own voice, in addition to other sounds. C100104 Sign or Symptom C90259 NICHD Terminology C122580 Pneumatosis Intestinalis Pneumatosis Intestinalis The presence of gas within the wall of the large or small intestine. The presence of gas within the wall of the large or small intestine. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C122581 Postoperative Infection Postoperative Infection Any infection documented following a surgical procedure that was not evident or suspected prior to the procedure. An infection documented following a surgical procedure that was not present or incubating prior to the procedure. C26726 Infectious Disorder C90259 NICHD Terminology C122582 Positive Pseudomonas Culture Positive Pseudomonas Culture A laboratory test result demonstrating the presence of bacteria from the genus Pseudomonas in a sample after culture. A laboratory test result demonstrating the presence of bacteria from the genus Pseudomonas in a sample after culture. C36292 Laboratory Test Result C90259 NICHD Terminology C122583 Hemiparesis Hemiparesis Weakness or incomplete paralysis of either the left or right side of the body. Weakness or incomplete paralysis of either the left or right side of the body. C4731 Neuropathy C90259 NICHD Terminology C122587 Indwelling Urinary Catheter Indwelling Urinary Catheter A hollow tube that is inserted and left in the bladder to promote the drainage of urine. A hollow tube that is inserted and left in the bladder to promote the drainage of urine. C62103 Device C90259 NICHD Terminology C122588 Peritoneal Dialysis Catheter Peritoneal Dialysis Catheter A hollow tube that is inserted in the abdomen to carry fluid into and out of the abdominal cavity. C62103 Device C90259 NICHD Terminology C122589 Hemodialysis Catheter Hemodialysis Catheter A hollow tube that is inserted into a large vein to carry blood to and from a dialysis machine. C62103 Device C90259 NICHD Terminology C122590 Venous Catheter Venous Catheter A hollow tube that is inserted into a vein. C62103 Device C90259 NICHD Terminology C122591 Peripherally Inserted Central Catheter Peripherally Inserted Central Catheter A central venous catheter inserted through a peripheral vein. C62103 Device C90259 NICHD Terminology C122592 Arterial catheter Arterial Catheter A hollow tube that is inserted into an artery. C62103 Device C90259 NICHD Terminology C122594 Oral Endotracheal Tube Oral Endotracheal Tube A hollow tube that is directed into the trachea from the mouth. C62103 Device C90259 NICHD Terminology C122595 Nasal Endotracheal Tube Nasal Endotracheal Tube A hollow tube that is directed into the trachea from the nose. C62103 Device C90259 NICHD Terminology C122596 Laryngeal Tube Laryngeal Tube A supraglottic airway device. C62103 Device C90259 NICHD Terminology C122597 Nasojejunal Tube Nasojejunal Tube A hollow tube that is directed into the jejunum from the nose. C62103 Device C90259 NICHD Terminology C122598 Pericardial Tube Pericardial Tube A hollow tube that is inserted into the pericardium through a surgical incision in the chest wall. C62103 Device C90259 NICHD Terminology C122599 Chest Tube Chest Tube A hollow tube that is inserted into the pleural space through a surgical incision in the chest wall. C62103 Device C90259 NICHD Terminology C122600 Rectal Tube Rectal Tube A hollow tube that is directed into the colon from the rectum. C62103 Device C90259 NICHD Terminology C122601 Extramedullary Involvement Extramedullary Involvement A finding indicating the involvement of sites other than the bone marrow by a hematopoietic neoplasm. A finding indicating the involvement of sites other than the bone marrow by a hematopoietic neoplasm. C36289 Hematopoietic System Finding C90259 NICHD Terminology C122602 Bone Marrow and Extramedullary Involvement Bone Marrow and Extramedullary Involvement Marrow and Extramedullary Involvement A finding indicating the involvement of the bone marrow and other anatomic sites, which may include the peripheral blood, lymph nodes, and/or extranodal sites, by a hematopoietic neoplasm. A finding indicating the involvement of the bone marrow and other anatomic sites, which may include the peripheral blood, lymph nodes, and/or extranodal sites, by a hematopoietic neoplasm. C36289 Hematopoietic System Finding C90259 NICHD Terminology C122603 Infant Leukemia Infant Leukemia An acute lymphoblastic or acute myeloid leukemia that occurs in infancy. Leukemia diagnosed at less than one year of age. C4989 Childhood Leukemia C90259 NICHD Terminology C122606 Early Relapse Early Relapse Early Recurrence Clinical and/or laboratory evidence of early reemergence of a disorder after a period of remission. Clinical and/or laboratory evidence of early reemergence of a disorder after a period of remission. C38155 Recurrent Disease C90259 NICHD Terminology C122607 Late Relapse Late Relapse Late Recurrence Clinical and/or laboratory evidence of late reemergence of a disorder after a period of remission. Clinical and/or laboratory evidence of late reemergence of a disorder after a period of remission. C38155 Recurrent Disease C90259 NICHD Terminology C122608 Tympanostomy Tube Tympanostomy Tube A hollow tube that is inserted into the eardrum through a surgical incision. C62103 Device C90259 NICHD Terminology C122609 Surgical Wound Drain Surgical Wound Drain A hollow tube inserted into a surgical incision to promote drainage during wound healing. C62103 Device C90259 NICHD Terminology C122610 Ventriculostomy Drain Ventriculostomy Drain A hollow tube that is surgically placed a cerebral ventricle to drain excess cerebrospinal fluid. C62103 Device C90259 NICHD Terminology C122611 T-Tube T-Tube A hollow tube in the shape of a T that is inserted into a body cavity through the skin to promote drainage. C62103 Device C90259 NICHD Terminology C122612 Pigtail Drain Pigtail Drain A hollow tube that has holes in the wall of the tube and a coiled tip and is inserted into a body cavity or organ to promote drainage. C62103 Device C90259 NICHD Terminology C122613 Swan Ganz Catheter Swan Ganz Catheter A hollow tube with a balloon or sail tip that is advanced into the pulmonary artery to measure right heart pressure and cardiac output, and enable mixed venous blood sampling. C62103 Device C90259 NICHD Terminology C122614 Infant Acute Lymphoblastic Leukemia Infant Acute Lymphoblastic Leukemia Infant ALL An acute lymphoblastic leukemia that occurs in infancy. Acute lymphoblastic leukemia occurring in children less than one year of age. The majority of the cases are associated with t(11q23)/MLL (Mixed Lineage Leukemia) gene rearrangements. C3168 Childhood Acute Lymphoblastic Leukemia C122603 Infant Leukemia C90259 NICHD Terminology C122615 Biliary Duct Stent Biliary Duct Stent A hollow tube that is advanced into an obstructed bile duct to allow the flow of bile into the bowel. C62103 Device C90259 NICHD Terminology C122616 Coronary Artery Stent Coronary Artery Stent An expandable hollow tube that is advanced into an obstructed or narrow coronary artery to restore blood flow to the heart. C62103 Device C90259 NICHD Terminology C122617 Infant Acute Lymphoblastic Leukemia with MLL Rearrangement Infant Acute Lymphoblastic Leukemia with MLL Gene Rearrangement Infant ALL with MLL Rearrangement An acute lymphoblastic leukemia with rearrangement of the MLL gene that occurs in infancy. A type of acute lymphoblastic leukemia that is seen more frequently in infants younger than six months of age, as compared to those between six months of age and one year; it is characterized by very high white blood cell counts and increased incidence of central nervous system involvement. C122614 Infant Acute Lymphoblastic Leukemia C90259 NICHD Terminology C122618 Cuffed Hemodialysis Catheter Cuffed Hemodialysis Catheter A hollow tube that is inserted into a large vein to carry blood to and from a dialysis machine where the exit site is secured just under the skin with a band-like structure to prevent slippage and infection. C62103 Device C90259 NICHD Terminology C122619 Cuffed Peritoneal Dialysis Catheter Cuffed Peritoneal Dialysis Catheter A hollow tube that is inserted in the abdomen to carry fluid into and out of the abdominal cavity where the exit site is secured just under the skin with a band-like structure to prevent slippage and infection. C62103 Device C90259 NICHD Terminology C122620 Uncuffed Dialysis Catheter Uncuffed Dialysis Catheter A hemodialysis or peritoneal dialysis catheter that does not utilize a band-like structure at the exit site just under the skin to prevent slippage and infection. C62103 Device C90259 NICHD Terminology C122621 Infant Acute Lymphoblastic Leukemia without KMT2A Gene Rearrangement Infant Acute Lymphoblastic Leukemia without MLL Gene Rearrangement Infant ALL without MLL Rearrangement An acute lymphoblastic leukemia without rearrangement of the KMT2A gene that occurs in infancy. Acute lymphoblastic leukemia (ALL) occurring in children less than 1 year of age; leukemic blasts show germline MLL gene configuration. C122614 Infant Acute Lymphoblastic Leukemia C90259 NICHD Terminology C122622 Surgically Placed Gastrostomy Tube Surgically Placed Gastrostomy Tube A hollow tube that is inserted into a surgically created external opening into the stomach. C62103 Device C90259 NICHD Terminology C122623 KMT2A Gene Rearrangement MLL Gene Rearrangement A molecular abnormality indicating rearrangement of the KMT2A gene. A molecular abnormality indicating rearrangement of the MLL gene. MLL gene rearrangements occur in approximately 20% of children with acute myeloid leukemia. C36292 Laboratory Test Result C90259 NICHD Terminology C122625 Childhood Acute Myeloid Leukemia Not Otherwise Specified Childhood Acute Myeloid Leukemia, Not Otherwise Specified Childhood AML, NOS || Childhood Acute Myeloid Leukemia, NOC || Childhood Acute Myeloid Leukemia, NOS || Childhood Acute Myeloid Leukemia, Not Otherwise Characterized Acute myeloid leukemias that occur in childhood and do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme. Acute myeloid leukemias that occur during childhood and do not fulfill the criteria for inclusion in the group of acute myeloid leukemias that have recurrent genetic abnormalities, myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme. C9160 Childhood Acute Myeloid Leukemia C90259 NICHD Terminology C122628 Maternal Proteinuria Maternal Proteinuria The presence of excessive protein, chiefly albumin but also globulin, in the urine of a pregnant woman. Presence of protein in urine greater than or equal to 300 mg per 24-hour urine collection or urine protein/creatinine (in mg/dL) ratio in a spot urine specimen greater than or equal to 0.3 or a dipstick reading of +1 or greater in a pregnant woman. C38012 Proteinuria C90259 NICHD Terminology C122638 Ostomy Site Ostomy Site The anatomic location of a surgically created ostomy. C32221 Body Part C90259 NICHD Terminology C122639 Duodenostomy Site Duodenostomy Site A surgically created external opening into the duodenum. A surgically created external opening into the duodenum. C122645 Enterostomy Site C90259 NICHD Terminology C12264 Meckel Diverticulum Meckel's Diverticulum A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction. C97171 Congenital Gastrointestinal Disorder C90259 NICHD Terminology C122640 Colostomy Site Colostomy Site A surgically created external opening into the colon. A surgically created external opening into the colon. C122645 Enterostomy Site C90259 NICHD Terminology C122641 Cystostomy Site Cystostomy Site A surgically created external opening into the anterior wall of the bladder. A surgically created external opening into the anterior wall of the bladder. C122638 Ostomy Site C90259 NICHD Terminology C122642 Ileostomy Site Ileostomy Site A surgically created external opening into the ileum. A surgically created external opening into the ileum. C122645 Enterostomy Site C90259 NICHD Terminology C122643 Tracheostomy Site Tracheostomy Site A surgically created external opening into the trachea. A surgically created external opening into the trachea. C122638 Ostomy Site C90259 NICHD Terminology C122644 Urostomy Site Urostomy Site A surgically created external opening into the urinary tract. A surgically created external opening into the urinary tract. C122638 Ostomy Site C90259 NICHD Terminology C122645 Enterostomy Site Enterostomy Site A surgically created external opening into the intestine. A surgically created external opening into the intestine. C122638 Ostomy Site C90259 NICHD Terminology C122646 Gastrostomy Site Gastrostomy Site A surgically created external opening into the stomach. A surgically created external opening into the stomach. C122638 Ostomy Site C90259 NICHD Terminology C122647 Jejunostomy Site Jejunostomy Site A surgically created external opening into the jejunum. A surgically created external opening into the jejunum. C122645 Enterostomy Site C90259 NICHD Terminology C122648 Nephrostomy Site Nephrostomy Site A surgically created external opening into the renal pelvis. A surgically created external opening into the renal pelvis. C122638 Ostomy Site C90259 NICHD Terminology C122690 Acute Myeloid Leukemia with t(7;12)(q36;p13); HLXB9-ETV6 Acute Myeloid Leukemia with t(7;12)(q36;p13); HLXB9-ETV6 AML with t(7;12)(q36;p13); HLXB9-ETV6 || AML with t(7;12)(q36;p13); MNX1-ETV6 || Acute Myeloid Leukemia with t(7;12)(q36;p13); MNX1-ETV6 An acute myeloid leukemia in infancy characterized by t(7;12)(q36;p13) and fusion of the homeobox gene HLXB9 (MNX1) with the ETV6 gene. An acute myeloid leukemia in infancy characterized by t(7;12)(q36;p13) and fusion of the homeobox gene HLXB9 with the ETV6 gene. This is seen in 3% of children with AML. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C90259 NICHD Terminology C122691 Childhood Acute Myeloid Leukemia with NUP98 Rearrangement Childhood Acute Myeloid Leukemia with NUP98 Rearrangement Childhood AML with NUP98 Rearrangement An acute myeloid leukemia that occurs in childhood and is characterized by the rearrangement of the NUP98 gene. An acute myeloid leukemia that occurs during childhood, and is characterized by the rearrangement of the NUP98 gene. C9160 Childhood Acute Myeloid Leukemia C90259 NICHD Terminology C122710 Medical Device Failure Medical Device Failure A medical device that is no longer functioning. A medical device that is no longer functioning. C78254 Device Complication C90259 NICHD Terminology C122711 Medical Device Malfunction Medical Device Malfunction A medical device that is functioning incorrectly. A medical device that is functioning incorrectly. C78254 Device Complication C90259 NICHD Terminology C122712 Medical Device Dislodged Medical Device Dislodged A medical device that was placed properly, but which has moved from the intended location. A medical device that was placed properly, but which has moved from the intended location. C78254 Device Complication C90259 NICHD Terminology C122713 Medical Device Misplaced Medical Device Misplaced A medical device that was placed in an unintended location. A medical device that was placed in an unintended location. C78254 Device Complication C90259 NICHD Terminology C122714 Testicular Involvement Testicular Involvement A finding indicating the involvement of the testis by a malignant neoplasm. A finding indicating the involvement of the testis by a malignant neoplasm. C36284 Reproductive System Finding C90259 NICHD Terminology C122715 Central Nervous System Involvement Central Nervous System Involvement CNS Involvement A finding indicating the involvement of the central nervous system by a malignant neoplasm. A finding indicating the involvement of the central nervous system by a malignant neoplasm. C36280 Nervous System Finding C90259 NICHD Terminology C122721 Hypercarbia Hypercarbia Excessive concentration of carbon dioxide in the blood. Excessive concentration of carbon dioxide in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C122722 Accidental Drug Ingestion Accidental Medicine Ingestion The unintentional consumption of a drug. The unintentional consumption of a drug. C3367 Finding C90259 NICHD Terminology C122725 Childhood Acute Myeloid Leukemia with Abnormalities of Chromosome 5q Childhood Acute Myeloid Leukemia with Abnormalities of Chromosome 5q Childhood AML with Abnormalities of Chromosome 5q A rare acute myeloid leukemia that occurs in childhood and is characterized primarily by deletions of 5q. Childhood acute myeloid leukemia (AML) characterized primarily by deletions of 5q(-5/5q-). This subtype occurs in 2% of children with AML. C9160 Childhood Acute Myeloid Leukemia C90259 NICHD Terminology C122726 Childhood Acute Myeloid Leukemia with Abnormalities of Chromosome 7 Childhood Acute Myeloid Leukemia with Abnormalities of Chromosome 7 Childhood AML with Abnormalities of Chromosome 7 A rare acute myeloid leukemia that occurs in childhood and is characterized by deletion of chromosome 7. Childhood acute myeloid leukemia (AML) characterized by deletion of chromosome 7. This subgroup occurs in 4% of children with AML. C9160 Childhood Acute Myeloid Leukemia C90259 NICHD Terminology C122784 Tracheobronchitis Tracheobronchitis Inflammation of the tracheobronchial tree. Inflammation of the tracheobronchial tree. C26871 Respiratory System Disorder C90259 NICHD Terminology C122785 Pneumatosis Pneumatosis The presence of gas in an anatomical location where it is not normally found. The presence of gas in an anatomical location where it is not normally found. C100104 Sign or Symptom C90259 NICHD Terminology C122786 Incarcerated Inguinal Hernia Incarcerated Inguinal Hernia The trapping of bowel or omentum inside the inguinal canal that cannot be reduced, resulting in inflammation, pain, nausea, and possible bowel obstruction. The trapping of bowel or omentum inside the inguinal canal that cannot be reduced, resulting in inflammation, pain, nausea, and possible bowel obstruction. C34690 Inguinal Hernia C90259 NICHD Terminology C122795 Nephrotic Syndrome - NPHS1 Associated Nephrotic Syndrome - NPHS1 Associated Congenital Nephrotic Syndrome - Finnish Type Nephrotic syndrome attributed to mutation(s) in the NPHS1 gene, which encodes the protein nephrin, and most commonly presents during the first three months of life. Nephrotic syndrome attributed to mutation(s) in the NPHS1 gene, which encodes the protein nephrin, and most commonly presents during the first three months of life. C34845 Nephrotic Syndrome C90259 NICHD Terminology C122796 Idiopathic Nephrotic Syndrome Idiopathic Nephrotic Syndrome Nephrotic syndrome for which no cause has been identified. Nephrotic syndrome for which no cause has been identified. C34845 Nephrotic Syndrome C90259 NICHD Terminology C122797 Nephrotic Syndrome of Childhood - Steroid Sensitive Nephrotic Syndrome of Childhood - Steroid Sensitive Steroid-Responsive Nephrotic Syndrome || Steroid-Sensitive Nephrotic Syndrome Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids. Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids. C34845 Nephrotic Syndrome C90259 NICHD Terminology C122798 Nephrotic Syndrome of Childhood - Steroid Resistant Nephrotic Syndrome of Childhood - Steroid Resistant Nephrotic Syndrome-Steroid-Resistant || Steroid-Resistant Nephrotic Syndrome Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids. Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids. C34845 Nephrotic Syndrome C90259 NICHD Terminology C122799 Nephrotic Syndrome- Steroid Dependent Nephrotic Syndrome- Steroid Dependent Nephrotic syndrome characterized by two or more consecutive relapses during steroid tapering or within fourteen days of discontinuing steroids. Nephrotic syndrome characterized by two or more consecutive relapses during steroid tapering or within fourteen days of discontinuing steroids. C34845 Nephrotic Syndrome C90259 NICHD Terminology C122800 Incident Nephrotic Syndrome Incident Nephrotic Syndrome New onset nephrotic syndrome. New onset nephrotic syndrome. C34845 Nephrotic Syndrome C90259 NICHD Terminology C122801 Prevalent Nephrotic Syndrome Prevalent Nephrotic Syndrome Pre-existing nephrotic syndrome. Pre-existing nephrotic syndrome. C34845 Nephrotic Syndrome C90259 NICHD Terminology C122802 Nephrotic Syndrome - Relapse Nephrotic Syndrome - Relapse Nephrotic syndrome characterized by recurrent proteinuria by dipstick of first morning urine: 2+ or greater for three days or longer, or the presence of edema with proteinuria of any duration following a remission. Nephrotic syndrome characterized by recurrent proteinuria by dipstick of first morning urine: 2+ or greater for three days or longer, or the presence of edema with proteinuria of any duration following a remission. C34845 Nephrotic Syndrome C90259 NICHD Terminology C122803 Nephrotic Syndrome - Frequently Relapsing Nephrotic Syndrome - Frequently Relapsing FRNS || Frequently Relapsing Nephrotic Syndrome Nephrotic syndrome in which there is relapse occurring two or more times in the first six months, or four or more times in a year. Nephrotic syndrome in which there is relapse occurring two or more times in the first six months, or four or more times in a year. C34845 Nephrotic Syndrome C90259 NICHD Terminology C122804 Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation-Obesity Syndrome WAGRO Syndrome WAGRO || Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome || Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation-Obesity Syndrome A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene. A condition resembling WAGR (Wilms tumor, aniridia, genitourinary anomalies and developmental delay) syndrome that also includes obesity. This is a contiguous gene syndrome due to deletion in the vicinity of chromosome 11p13-p12 in a region containing the WT1, PAX6 and BDNF genes. C3266 Hereditary Neoplastic Syndrome C90259 NICHD Terminology C122805 Frasier Syndrome Frasier Syndrome A condition, which typically presents during adolescence, that is caused by WT-1 mutation, and is characterized by a developmental sex disorder, FSGS, and may be associated with gonadoblastoma. A Wilms tumor 1 gene syndrome caused by a mutation in an intron of the WT1 gene that removes an alternative splice site resulting in loss of one isoform of the Wilms tumor protein. This condition is characterized by focal segmental glomerulosclerosis, gonadal dysgenesis resulting in atypical genital and reproductive tract development in male infants, and a high risk for the development of gonadoblastoma. C28193 Syndrome C90259 NICHD Terminology C122806 Diffuse Endocapillary Glomerulonephritis Diffuse Endocapillary Glomerulonephritis Glomerulonephritis characterized by endocapillary proliferation and the presence of inflammatory cells affecting 50% or more of all glomeruli. Glomerulonephritis characterized by endocapillary proliferation and the presence of inflammatory cells affecting 50% or more of all glomeruli. C26784 Glomerulonephritis C90259 NICHD Terminology C122818 Closure Patent Ductus Arteriosus Closure Patent Ductus Arteriosus The closing of the ductus arteriosus; this can occur naturally or as a result of a therapeutic procedure. The closing of the ductus arteriosus; this can occur naturally or as a result of a therapeutic procedure. C35552 Cardiovascular System Finding C90259 NICHD Terminology C122822 Cholelithiasis Cholelithiasis Gallstones The presence of calculi in the gallbladder. The presence of calculi in the gallbladder. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C122990 Penile Chordee Penile Chordee Congenital curvature of the penis. Congenital curvature of the penis. C98885 Congenital Urinary System Abnormality C90259 NICHD Terminology C122991 Renal Hypertrophy Renal Hypertrophy Hypertrophy of the Kidney Global enlargement of the renal parenchyma in one or both kidneys. Global enlargement of the renal parenchyma in one or both kidneys. C3149 Kidney Disease C90259 NICHD Terminology C122992 Solitary Cyst of Kidney Solitary Cyst of Kidney Solitary Renal Cyst A single cyst located in the kidney. A single cyst located in the kidney. C3149 Kidney Disease C90259 NICHD Terminology C123013 Chronic Urate Nephropathy Chronic Urate Nephropathy Chronic kidney disease resulting from deposition of urate crystals or microtophi in the medullary interstitium. Chronic kidney disease resulting from deposition of urate crystals or microtophi in the medullary interstitium. C34843 Nephropathy C90259 NICHD Terminology C123014 Drug-Induced Tubulointerstitial Nephritis Drug-Induced Tubulointerstitial Nephritis Tubulointerstitial nephritis resulting from a drug exposure. Tubulointerstitial nephritis resulting from a drug exposure. C26834 Tubulointerstitial Nephritis C90259 NICHD Terminology C123015 Glomerulocystic Disease Glomerulocystic Disease Glomerulocystic Kidney Disease A condition characterized by dilatation of the Bowman space and affecting more than 5% of the glomeruli. A condition characterized by dilatation of the Bowman space and affecting more than 5% of the glomeruli. C120887 Glomerulopathy C90259 NICHD Terminology C123016 Perinephric Abscess Perinephric Abscess An abscess that is located outside the renal capsule, but which is within Gerota's space. An abscess that is located outside the renal capsule, but which is within Gerota's space. C26686 Abscess C90259 NICHD Terminology C123017 Renal Abscess Renal Abscess Kidney Abscess An abscess that is located within the renal parenchyma. An abscess that is located within the renal parenchyma. C26686 Abscess C90259 NICHD Terminology C123018 Renal Cysts and Diabetes Syndrome Hepatocyte Nuclear Factor 1-Beta-Associated Monogenic Diabetes RCAD || RCAD Syndrome || Renal Cysts and Diabetes Syndrome Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1B, encoding hepatocyte nuclear factor 1-beta. In addition to diabetes, this condition may be associated with renal cysts and urogenital anomalies. Homozygous HNF1B mutations result in permanent neonatal diabetes. Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1B, encoding hepatocyte nuclear factor 1-beta. In addition to diabetes, this condition may be associated with renal cysts and urogenital anomalies. Homozygous HNF1B mutations result in permanent neonatal diabetes. C129739 Monogenic Diabetes C28193 Syndrome C90259 NICHD Terminology Maturity Onset Diabetes of the Young, Type 5 C123020 Renal Tuberculosis Renal Tuberculosis Infection of the kidney due to mycobacteria. Infection of the kidney due to mycobacteria. C3423 Tuberculosis C90259 NICHD Terminology C123021 Tubulointerstitial Nephritis and Uveitis Tubulointerstitial Nephritis and Uveitis TINU An autoimmune disorder comprising tubulointerstitial nephritis and uveitis. An autoimmune disorder comprising tubulointerstitial nephritis and uveitis. C28193 Syndrome C90259 NICHD Terminology C123022 IgM - Associated Nephropathy IgM - Associated Nephropathy A condition characterized by deposition of IgM antibody in the glomerulus. A condition characterized by deposition of IgM antibody in the glomerulus. C26784 Glomerulonephritis C90259 NICHD Terminology C123023 Membranous Lupus Nephritis Membranous Lupus Nephritis Membranous nephritis associated with systemic lupus erythematosus. Membranous nephritis associated with systemic lupus erythematosus. C34645 Membranous Nephropathy C90259 NICHD Terminology C123024 Acute Uric Acid Nephropathy Acute Uric Acid Nephropathy Kidney damage resulting from uric acid precipitation within the renal tubules. Kidney damage resulting from uric acid precipitation within the renal tubules. C34843 Nephropathy C90259 NICHD Terminology C123025 Aristolochic Acid Nephropathy Aristolochic Acid Nephropathy Balkan Endemic Nephropathy || Chinese Herb Endemic Nephropathy || Endemic Nephropathy Chronic tubulointerstitial disease resulting from aristolochic acid. Chronic tubulointerstitial disease resulting from aristolochic acid. C34843 Nephropathy C90259 NICHD Terminology C123026 Congenital Renal Hypoplasia Congenital Renal Hypoplasia The underdevelopment of otherwise normal renal parenchyma, characterized by decreased nephron size and possibly a decreased number of nephrons at birth. The underdevelopment of otherwise normal renal parenchyma, characterized by decreased nephron size and possibly a decreased number of nephrons at birth. C98885 Congenital Urinary System Abnormality C90259 NICHD Terminology C123027 Hantavirus Nephropathy Hantavirus Nephropathy Tubulointerstitial hemorrhage resulting from hantavirus infection. Tubulointerstitial hemorrhage resulting from hantavirus infection. C34843 Nephropathy C90259 NICHD Terminology C123028 Heavy-Metal-Induced Nephropathy Heavy-Metal-Induced Nephropathy Damage to the kidney and renal tubules resulting from heavy metal exposure. Damage to the kidney and renal tubules resulting from heavy metal exposure. C34843 Nephropathy C90259 NICHD Terminology C123029 Leptospirosis Nephropathy Leptospirosis Nephropathy Leptospiral Nephropathy Interstitial nephritis due to Leptospira, which may be associated with non-oliguric acute kidney injury. Interstitial nephritis due to Leptospira, which may be associated with non-oliguric acute kidney injury. C34843 Nephropathy C90259 NICHD Terminology C123030 Magnesium Ammonium Phosphate Urolithiasis Magnesium Ammonium Phosphate Urolithiasis Struvite Urolithiasis Urolithiasis in which the composition of the stone(s) is predominantly magnesium ammonium phosphate. Urolithiasis in which the composition of the stone(s) is predominantly magnesium ammonium phosphate. C114688 Urolithiasis C90259 NICHD Terminology C123031 Multicystic Dysplastic Kidney Multicystic Dysplastic Kidney Abnormal development of the kidney that is characterized by atretic ureter, multiple cysts of different sizes that are separated by dysplastic parenchyma, and complete lack of function. Abnormal development of the kidney that is characterized by atretic ureter, multiple cysts of different sizes that are separated by dysplastic parenchyma, and complete lack of function. C34750 Cystic Kidney Disease C90259 NICHD Terminology C123032 Pyonephrosis Pyonephrosis Pus within the collecting system of the kidney. Pus within the collecting system of the kidney. C34843 Nephropathy C90259 NICHD Terminology C123033 Radiation Nephropathy Radiation Nephropathy Tissue damage to the glomerulus and renal tubules resulting from irradiation, which is characterized by vascular endothelial damage, mesangial damage, platelet aggregation in the capillary loops, thickening of the glomerular arteriolar intimal layer, and atrophic tubules. Tissue damage to the glomerulus and renal tubules resulting from irradiation, which is characterized by vascular endothelial damage, mesangial damage, platelet aggregation in the capillary loops, thickening of the glomerular arteriolar intimal layer, and atrophic tubules. C34843 Nephropathy C90259 NICHD Terminology C123034 Renal Dysplasia Due to Fetal Exposure to ACE Inhibitor or ARB Renal Dysplasia Due to Fetal Exposure to ACE Inhibitor or ARB Tubular Dysgenesis related to Fetal Exposure to ACE Inhibitor or ARB Tubular dysgenesis resulting from maternal exposure to a class of drugs known as angiotensin converting enzyme (ACE) inhibitors or angiotensin receptor blockers (ARB). Tubular dysgenesis resulting from maternal exposure to a class of drugs known as angiotensin converting enzyme (ACE) inhibitors or angiotensin receptor blockers (ARB). C3847 Renal Cell Dysplasia C90259 NICHD Terminology C123035 Schistosomiasis Nephropathy Schistosomiasis Nephropathy Kidney disease associated with Schistosoma infection. Injury to the kidney may be a result of immunologically mediated glomerular or interstitial injury and/or a result of reflux nephropathy. Kidney disease associated with Schistosoma infection. Injury to the kidney may be a result of immunologically mediated glomerular or interstitial injury and/or a result of reflux nephropathy. C34843 Nephropathy C90259 NICHD Terminology C123036 Tubulointerstitial Disease Tubulointerstitial Disease Disease affecting the renal tubules and interstitium of the kidney. Disease affecting the renal tubules and interstitium of the kidney. C34843 Nephropathy C90259 NICHD Terminology C123037 Uric Acid Nephrolithiasis Uric Acid Nephrolithiasis Nephrolithiasis in which the composition of the stone(s) is predominantly uric acid. Nephrolithiasis in which the composition of the stone(s) is predominantly uric acid. C114667 Kidney Stone C90259 NICHD Terminology C123038 Xanthogranulomatous Pyelonephritis Xanthogranulomatous Pyelonephritis Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli. Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli. C34965 Pyelonephritis C90259 NICHD Terminology C123039 Dense Deposit Disease Dense Deposit Disease Membranoproliferative Glomerulonephritis Type 2 || Mesangiocapillary Glomerulonephritis Type 2 Proliferative glomerulonephritis characterized by activation of the alternative complement pathway, resulting in mesangial hypercellularity, endocapillary proliferation, and glomerular basement membrane intramembranous highly electron dense deposits. Proliferative glomerulonephritis characterized by activation of the alternative complement pathway, resulting in mesangial hypercellularity, endocapillary proliferation, and glomerular basement membrane intramembranous highly electron dense deposits. C34644 Membranoproliferative Glomerulonephritis C90259 NICHD Terminology C123040 Glomerulomegaly Glomerulomegaly Glomerular enlargement greater than the fiftieth percentile. Glomerular enlargement greater than the fiftieth percentile. C120887 Glomerulopathy C90259 NICHD Terminology C123042 Obesity Related Glomerulopathy Obesity Related Glomerulopathy Diffuse glomerular (greater than 50% of glomeruli) hypertrophy (greater than 250 micron diameter) that occurs in the context of obesity. Diffuse glomerular (greater than 50% of glomeruli) hypertrophy (greater than 250 micron diameter) that occurs in the context of obesity. C37308 Focal Segmental Glomerulosclerosis C90259 NICHD Terminology C123043 C3 Glomerulonephritis C3 Glomerulonephritis Complement-Mediated Membranoproliferative Glomerulonephritis Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease. Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease. C26784 Glomerulonephritis C90259 NICHD Terminology C123044 Collapsing Glomerulopathy Collapsing Glomerulopathy Segmental or global glomerulopathy with tuft wrinkling, collapse and contraction without increased matrix or cells, but with adjacent podocyte hypertrophy and hyperplasia. Segmental or global glomerulopathy with tuft wrinkling, collapse and contraction without increased matrix or cells, but with adjacent podocyte hypertrophy and hyperplasia. C120887 Glomerulopathy C90259 NICHD Terminology C123045 Congenital Nephrotic Syndrome - Cytomegalovirus Associated Congenital Nephrotic Syndrome - Cytomegalovirus Associated Cytomegalovirus Associated Congenital Nephrotic Syndrome Nephrotic syndrome associated with a cytomegalovirus infection, most commonly presenting in the first three months of life. Nephrotic syndrome associated with a cytomegalovirus infection, most commonly presenting in the first three months of life. C35337 Congenital Nephrotic Syndrome C90259 NICHD Terminology C123046 Congenital Nephrotic Syndrome - Infection Associated Congenital Nephrotic Syndrome - Infection Associated Infection Associated Congenital Nephrotic Syndrome Nephrotic syndrome presenting within the first three months of life, and which is associated with an infectious process. Nephrotic syndrome presenting within the first three months of life, and which is associated with an infectious process. C35337 Congenital Nephrotic Syndrome C90259 NICHD Terminology C123047 Congenital Nephrotic Syndrome - Rubivirus Associated Congenital Nephrotic Syndrome - Rubivirus Associated Rubivirus Associated Congenital Nephrotic Syndrome Nephrotic syndrome associated with rubella, most commonly presenting in the first three months of life. Nephrotic syndrome associated with rubella, most commonly presenting in the first three months of life. C35337 Congenital Nephrotic Syndrome C90259 NICHD Terminology C123048 Congenital Nephrotic Syndrome - Toxoplasma Associated Congenital Nephrotic Syndrome - Toxoplasma Associated Toxoplasma Associated Congenital Nephrotic Syndrome Nephrotic syndrome associated with toxoplasmosis, most commonly presenting in the first three months of life. Nephrotic syndrome associated with toxoplasmosis, most commonly presenting in the first three months of life. C35337 Congenital Nephrotic Syndrome C90259 NICHD Terminology C123049 Congenital Nephrotic Syndrome - Treponema Pallidum Associated Congenital Nephrotic Syndrome - Treponema Pallidum Associated Treponema Pallidum Associated Congenital Nephrotic Syndrome Nephrotic syndrome associated with syphilis, most commonly presenting in the first three months of life. Nephrotic syndrome associated with syphilis, most commonly presenting in the first three months of life. C35337 Congenital Nephrotic Syndrome C90259 NICHD Terminology C123050 Cryoglobulinemic Glomerulonephritis Cryoglobulinemic Glomerulonephritis Glomerulonephritis in the context of cryoglobulinemia. Glomerulonephritis in the context of cryoglobulinemia. C26784 Glomerulonephritis C90259 NICHD Terminology C123051 Focal Segmental Glomerulosclerosis Cellular Variant Focal Segmental Glomerulosclerosis Cellular Variant FSGS Cellular Variant A variant of FSGS characterized by hypercellularity of the glomerulus; this excludes the tip and collapsing FSGS. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.) A variant of FSGS characterized by hypercellularity of the glomerulus; this excludes the tip and collapsing FSGS. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.) C37308 Focal Segmental Glomerulosclerosis C90259 NICHD Terminology C123052 Focal Segmental Glomerulosclerosis Collapsing Variant Focal Segmental Glomerulosclerosis Collapsing Variant FSGS Collapsing Variant A variant of FSGS characterized by glomerular tuft collapse, which may result in scarring. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.) A variant of FSGS characterized by glomerular tuft collapse, which may result in scarring. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.) C37308 Focal Segmental Glomerulosclerosis C90259 NICHD Terminology C123053 Focal Segmental Glomerulosclerosis Perihilar Variant Focal Segmental Glomerulosclerosis Perihilar Variant FSGS Perihilar Variant A variant of FSGS characterized by scarring of the glomerulus where at least 50% of the scars are adjacent to the hilum and must have hyalinosis; this excludes cellular, tip and collapsing FSGS. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.) A variant of FSGS characterized by scarring of the glomerulus where at least 50% of the scars are adjacent to the hilum and must have hyalinosis; this excludes cellular, tip and collapsing FSGS. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.) C37308 Focal Segmental Glomerulosclerosis C90259 NICHD Terminology C123054 Focal Segmental Glomerulosclerosis Tip Lesion Variant Focal Segmental Glomerulosclerosis Tip Lesion Variant FSGS Tip Lesion Variant A variant of FSGS characterized by scarring of the glomerulus adjacent to the origin of the proximal convoluted tubule; this occurs in the absence of collapsing and perihilar FSGS. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.) A variant of FSGS characterized by scarring of the glomerulus adjacent to the origin of the proximal convoluted tubule; this occurs in the absence of collapsing and perihilar FSGS. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.) C37308 Focal Segmental Glomerulosclerosis C90259 NICHD Terminology C123055 Immune Complex Mediated Membranoproliferative Glomerulonephritis Immune Complex Mediated Membranoproliferative Glomerulonephritis Membranoproliferative Glomerulonephritis Type I || Mesangiocapillary Glomerulonephritis Type 1 Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation. Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation. C34644 Membranoproliferative Glomerulonephritis C90259 NICHD Terminology C123056 Membranoproliferative Glomerulonephritis Type 3 (AQ) Membranoproliferative Glomerulonephritis Type 3 (AQ) Glomerulonephritis similar in appearance under light microscopy to membranoproliferative glomerulonephritis (MPGN) I, but with subepithelial or transmembranous and subendothelial deposits on electron microscopy. Glomerulonephritis similar in appearance under light microscopy to membranoproliferative glomerulonephritis (MPGN) I, but with subepithelial or transmembranous and subendothelial deposits on electron microscopy. C34644 Membranoproliferative Glomerulonephritis C90259 NICHD Terminology Mesangiocapillary Glomerulonephritis Type 3 C123057 Membranous Nephropathy - Autoimmune Disorder Associated Membranous Nephropathy - Autoimmune Disorder Associated Membranous nephropathy associated with an autoimmune disorder. Membranous nephropathy associated with an autoimmune disorder. C34645 Membranous Nephropathy C90259 NICHD Terminology C123059 Membranous Nephropathy - Drug Associated Membranous Nephropathy - Drug Associated Drug Associated Membranous Nephropathy Membranous nephropathy associated with exposure to a drug. Membranous nephropathy associated with exposure to a drug. C34645 Membranous Nephropathy C90259 NICHD Terminology C123060 Membranous Nephropathy - Idiopathic Membranous Nephropathy - Idiopathic Idiopathic Membranous Glomerulopathy || Idiopathic Membranous Nephropathy Membranous nephropathy for which no cause has been identified. Membranous nephropathy for which no cause has been identified. C34645 Membranous Nephropathy C90259 NICHD Terminology C123061 Membranous Nephropathy - Infection Associated Membranous Nephropathy - Infection Associated Membranous nephropathy associated with infectious disease. Membranous nephropathy associated with infectious disease. C34645 Membranous Nephropathy C90259 NICHD Terminology C123062 Membranous Nephropathy - Malignancy Associated Membranous Nephropathy - Malignancy Associated Malignancy Associate Membranous Nephropathy Membranous nephropathy in the context of malignancy. Membranous nephropathy in the context of malignancy. C34645 Membranous Nephropathy C90259 NICHD Terminology C123063 Membranous Nephropathy - NEP Induced Membranous Nephropathy - NEP Induced NEP Induced Membranous Nephropathy || Neural Endopeptidase Induced Membranous Nephropathy Membranous nephropathy due to neural endopeptidase (NEP) antibodies. Membranous nephropathy due to neural endopeptidase (NEP) antibodies. C34645 Membranous Nephropathy C90259 NICHD Terminology C123064 Membranous Nephropathy - PLA2R Induced Membranous Nephropathy - PLA2R Induced PLA2R Induced Membranous Nephropathy || Phospholipase 2 Receptor Membranous Nephropathy Membranous nephropathy due to phospholipase 2 receptor (PLA2R) antibodies. Membranous nephropathy due to phospholipase 2 receptor (PLA2R) antibodies. C34645 Membranous Nephropathy C90259 NICHD Terminology C123065 Membranous Nephropathy - THSD7A Induced Membranous Nephropathy - THSD7A Induced THSD7A Induced Membranous Nephropathy || Thrombospondin Type-1 domain-containing Protein Membranous Nephropathy Membranous nephropathy due to thrombospondin type-1 domain-containing protein 7A (THSD7A) antibodies. Membranous nephropathy due to thrombospondin type-1 domain-containing protein 7A (THSD7A) antibodies. C34645 Membranous Nephropathy C90259 NICHD Terminology C123066 Nephrotic Range Proteinuria Nephrotic Range Proteinuria In children, urine protein greater than or equal to 40mg/m^2/h; alternatively, greater than or equal to 0.25gm/mmol creatinine or 2gm/gm creatinine obtained from a first morning specimen. In children, urine protein greater than or equal to 40mg/m^2/h; alternatively, greater than or equal to 0.25gm/mmol creatinine or 2gm/gm creatinine obtained from a first morning specimen. C38012 Proteinuria C90259 NICHD Terminology C123067 Nephrotic Syndrome - ACTN4 Associated Nephrotic Syndrome - ACTN4 Associated Nephrotic syndrome attributed to mutation(s) in the ACTN4 gene. Nephrotic syndrome attributed to mutation(s) in the ACTN4 gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123068 Nephrotic Syndrome - ADCK4 Associated Nephrotic Syndrome - ADCK4 Associated Nephrotic syndrome attributed to mutation(s) in the ADCK4 gene. Nephrotic syndrome attributed to mutation(s) in the ADCK4 gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123069 Nephrotic Syndrome - ANLN Associated Nephrotic Syndrome - ANLN Associated Nephrotic syndrome attributed to mutation(s) in the ANLN gene. Nephrotic syndrome attributed to mutation(s) in the ANLN gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123070 Nephrotic Syndrome - ARHGAP24 Associated Nephrotic Syndrome - ARHGAP24 Associated Nephrotic syndrome attributed to mutation(s) in the ARHGAP24 gene. Nephrotic syndrome attributed to mutation(s) in the ARHGAP24 gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123071 Nephrotic Syndrome - ARHGDIA Associated Nephrotic Syndrome - ARHGDIA Associated Nephrotic syndrome attributed to mutation(s) in the ARHGDIA gene. Nephrotic syndrome attributed to mutation(s) in the ARHGDIA gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123072 Nephrotic Syndrome - CD2AP Associated Nephrotic Syndrome - CD2AP Associated Nephrotic syndrome attributed to mutation(s) in the CD2AP gene. Nephrotic syndrome attributed to mutation(s) in the CD2AP gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123073 Nephrotic Syndrome - CFH Associated Nephrotic Syndrome - CFH Associated Nephrotic syndrome attributed to mutation(s) in the CFH gene. Nephrotic syndrome attributed to mutation(s) in the CFH gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123074 Nephrotic Syndrome - COQ2 Associated Nephrotic Syndrome - COQ2 Associated Nephrotic syndrome attributed to mutation(s) in the COQ2 gene. Nephrotic syndrome attributed to mutation(s) in the COQ2 gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123075 Nephrotic Syndrome - COQ6 Associated Nephrotic Syndrome - COQ6 Associated Nephrotic syndrome attributed to mutation(s) in the COQ6 gene. Nephrotic syndrome attributed to mutation(s) in the COQ6 gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123076 Nephrotic Syndrome - CRB2 Associated Nephrotic Syndrome - CRB2 Associated Nephrotic syndrome attributed to mutation(s) in the CRB2 gene. Nephrotic syndrome attributed to mutation(s) in the CRB2 gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123077 Nephrotic Syndrome - CUBN Associated Nephrotic Syndrome - CUBN Associated Nephrotic syndrome attributed to mutation(s) in the CUBN gene. Nephrotic syndrome attributed to mutation(s) in the CUBN gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123078 Nephrotic Syndrome - Cytomegalovirus Associated Nephrotic Syndrome - Cytomegalovirus Associated Cytomegalovirus Associated Nephrotic Syndrome Nephrotic syndrome associated with a cytomegalovirus infection. Nephrotic syndrome associated with a cytomegalovirus infection. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123079 Nephrotic Syndrome - DGKE Associated Nephrotic Syndrome - DGKE Associated Nephrotic syndrome attributed to mutation(s) in the DGKE gene. Nephrotic syndrome attributed to mutation(s) in the DGKE gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123080 Nephrotic Syndrome - EMP2 Associated Nephrotic Syndrome - EMP2 Associated Nephrotic syndrome attributed to mutation(s) in the EMP2 gene. Nephrotic syndrome attributed to mutation(s) in the EMP2 gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123081 Nephrotic Syndrome - Epstein-Barr Virus Associated Nephrotic Syndrome - Epstein-Barr Virus Associated Epstein-Barr Virus Associated Nephrotic Syndrome Nephrotic syndrome associated with Epstein-Barr infection. Nephrotic syndrome associated with Epstein-Barr infection. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123082 Nephrotic Syndrome - Hepatitis B Virus Associated Nephrotic Syndrome - Hepatitis B Virus Associated Hepatitis B Virus Associated Nephrotic Syndrome Nephrotic syndrome associated with hepatitis B. Nephrotic syndrome associated with hepatitis B. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123083 Nephrotic Syndrome - Hepatitis C Virus Associated Nephrotic Syndrome - Hepatitis C Virus Associated Hepatitis C Virus Associated Nephrotic Syndrome Nephrotic syndrome associated with a hepatitis C infection. Nephrotic syndrome associated with a hepatitis C infection. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123084 Nephrotic Syndrome - Human Immunodeficiency Virus Associated Nephrotic Syndrome - Human Immunodeficiency Virus Associated Human Immunodeficiency Virus Associated Nephrotic Syndrome Nephrotic syndrome associated with human immunodeficiency virus infection. Nephrotic syndrome associated with human immunodeficiency virus infection. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123085 Nephrotic Syndrome - INF2 Associated Nephrotic Syndrome - INF2 Associated Nephrotic syndrome attributed to mutation(s) in the INF2 gene. Nephrotic syndrome attributed to mutation(s) in the INF2 gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123086 Nephrotic Syndrome - Infection Associated Nephrotic Syndrome - Infection Associated Infection Associated Nephrotic Syndrome Nephrotic syndrome associated with an infectious process. Nephrotic syndrome associated with an infectious process. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123087 Nephrotic Syndrome - ITGA3 Associated Nephrotic Syndrome - ITGA3 Associated Nephrotic syndrome attributed to mutation(s) in the ITGA3 gene. Nephrotic syndrome attributed to mutation(s) in the ITGA3 gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123088 Nephrotic Syndrome - ITGB4 Associated Nephrotic Syndrome - ITGB4 Associated Nephrotic syndrome attributed to mutation(s) in the ITGB4 gene. Nephrotic syndrome attributed to mutation(s) in the ITGB4 gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123089 Nephrotic Syndrome - LAMB2 Associated Nephrotic Syndrome - LAMB2 Associated Nephrotic syndrome attributed to mutation(s) in the LAMB2 gene. Nephrotic syndrome attributed to mutation(s) in the LAMB2 gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123090 Nephrotic Syndrome - LMX1B Associated Nephrotic Syndrome - LMX1B Associated Nephrotic syndrome attributed to mutation(s) in the LMX1B gene. Nephrotic syndrome attributed to mutation(s) in the LMX1B gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123091 Nephrotic Syndrome - Malaria Associated Nephrotic Syndrome - Malaria Associated Malaria Associated Nephrotic Syndrome Nephrotic syndrome associated with malaria. Nephrotic syndrome associated with malaria. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123092 Nephrotic Syndrome - MEFV Associated Nephrotic Syndrome - MEFV Associated Nephrotic syndrome attributed to mutation(s) in the MEFV gene. Nephrotic syndrome attributed to mutation(s) in the MEFV gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123093 Nephrotic Syndrome - MYO1E Associated Nephrotic Syndrome - MYO1E Associated Nephrotic syndrome attributed to mutation(s) in the MYO1E gene. Nephrotic syndrome attributed to mutation(s) in the MYO1E gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123094 Nephrotic Syndrome - NEIL1 Associated Nephrotic Syndrome - NEIL1 Associated Nephrotic syndrome attributed to mutation(s) in the NEIL1 gene. Nephrotic syndrome attributed to mutation(s) in the NEIL1 gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123095 Nephrotic Syndrome - NPHS2 Associated Nephrotic Syndrome - NPHS2 Associated Nephrotic syndrome attributed to mutation(s) in the NPHS2 gene. Nephrotic syndrome attributed to mutation(s) in the NPHS2 gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123096 Nephrotic Syndrome - Parvovirus B19 Associated Nephrotic Syndrome - Parvovirus B19 Associated Parvovirus B19 Associated Nephrotic Syndrome Nephrotic syndrome associated with a parvovirus B19 infection. Nephrotic syndrome associated with a parvovirus B19 infection. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123097 Nephrotic Syndrome - PDSS2 Associated Nephrotic Syndrome - PDSS2 Associated Nephrotic syndrome attributed to mutation(s) in the PDSS2 gene. Nephrotic syndrome attributed to mutation(s) in the PDSS2 gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123098 Nephrotic Syndrome - PLCE1 Associated Nephrotic Syndrome - PLCE1 Associated Nephrotic syndrome attributed to mutation(s) in the PLCE1 gene. Nephrotic syndrome attributed to mutation(s) in the PLCE1 gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123099 Nephrotic Syndrome - PTPRO Associated Nephrotic Syndrome - PTPRO Associated Nephrotic Syndrome - GLEPP1 Associated Nephrotic syndrome attributed to mutation(s) in the PTPRO gene. Nephrotic syndrome attributed to mutation(s) in the PTPRO gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123100 Nephrotic Syndrome - SCARB2 Associated Nephrotic Syndrome - SCARB2 Associated Nephrotic syndrome attributed to mutation(s) in the SCARB2 gene. Nephrotic syndrome attributed to mutation(s) in the SCARB2 gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123101 Nephrotic Syndrome - Simian Virus 40 Associated Nephrotic Syndrome - Simian Virus 40 Associated Simian Virus 40 Associated Nephrotic Syndrome Nephrotic syndrome associated with a simian virus 40 infection. Nephrotic syndrome associated with a simian virus 40 infection. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123102 Nephrotic Syndrome - SMARCAL1 Associated Nephrotic Syndrome - SMARCAL1 Associated Nephrotic syndrome attributed to mutation(s) in the SMARCAL1 gene. Nephrotic syndrome attributed to mutation(s) in the SMARCAL1 gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123103 Nephrotic Syndrome - Syphilis Associated Nephrotic Syndrome - Syphilis Associated Syphilis Associated Nephrotic Syndrome Nephrotic syndrome associated with a syphilis infection. Nephrotic syndrome associated with a syphilis infection. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123104 Nephrotic Syndrome - Toxoplasmosis Associated Nephrotic Syndrome - Toxoplasmosis Associated Toxoplasmosis Associated Nephrotic Syndrome Nephrotic syndrome associated with a toxoplasmosis infection. Nephrotic syndrome associated with a toxoplasmosis infection. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123105 Nephrotic Syndrome - TRPC6 Associated Nephrotic Syndrome - TRPC6 Associated Nephrotic syndrome attributed to mutation(s) in the TRPC6 gene. Nephrotic syndrome attributed to mutation(s) in the TRPC6 gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123106 Nephrotic Syndrome - WT1 Associated Nephrotic Syndrome - WT1 Associated Nephrotic syndrome attributed to mutation(s) in the WT1 gene. Nephrotic syndrome attributed to mutation(s) in the WT1 gene. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123108 Pauci-Immune Glomerulonephritis - ANCA Negative Pauci-immune Glomerulonephritis - ANCA Negative Glomerulonephritis with paucity of glomerular staining for immunoglobulins that may be accompanied by systemic, small vessel vasculitis containing no anti neutrophil cytoplasm antibody (ANCA). Glomerulonephritis with paucity of glomerular staining for immunoglobulins that may be accompanied by systemic, small vessel vasculitis containing no anti neutrophil cytoplasm antibody (ANCA). C26784 Glomerulonephritis C90259 NICHD Terminology C123109 Pauci-Immune Glomerulonephritis - Renal Limited Pauci-immune Glomerulonephritis - Renal Limited Glomerulonephritis in which anti-neutrophil cytoplasm antibody (ANCA) is almost always present and vasculitis is limited to the kidney. Glomerulonephritis in which anti-neutrophil cytoplasm antibody (ANCA) is almost always present and vasculitis is limited to the kidney. C26784 Glomerulonephritis C90259 NICHD Terminology C123110 Pauci-Immune Glomerulonephritis associated with Eosinophilic Granulomatosis with Polyangiitis Pauci-immune Glomerulonephritis associated with Eosinophilic Granulomatosis with Polyangiitis Glomerulonephritis in the context of eosinophilic-rich granulomatosis with polyangiitis, eosinophilia, asthma and commonly anti-neutrophil cytoplasmic antibody. Glomerulonephritis in the context of eosinophilic-rich granulomatosis with polyangiitis, eosinophilia, asthma and commonly anti-neutrophil cytoplasmic antibody. C26784 Glomerulonephritis C90259 NICHD Terminology Churg-Strauss Syndrome Associated Glomerulonephritis C123111 Pauci-Immune Glomerulonephritis associated with Granulomatosis with Polyangiitis Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis Wegener Granulomatosis Glomerulonephritis in the context of granulomatosis with polyangiitis in which anti-neutrophil cytoplasm antibody (ANCA) is almost always present. Glomerulonephritis in the context of granulomatosis with polyangiitis in which anti-neutrophil cytoplasm antibody (ANCA) is almost always present. C26784 Glomerulonephritis C90259 NICHD Terminology C123112 Pauci-Immune Glomerulonephritis associated with Microscopic Polyangiitis Pauci-immune Glomerulonephritis associated with Microscopic Polyangiitis Glomerulonephritis in the context of systemic, small vessel vasculitis in which anti neutrophil cytoplasm antibody (ANCA) is almost always present. Glomerulonephritis in the context of systemic, small vessel vasculitis in which anti neutrophil cytoplasm antibody (ANCA) is almost always present. C26784 Glomerulonephritis C90259 NICHD Terminology C123113 Primary Collapsing Glomerulopathy Primary Collapsing Glomerulopathy Collapsing glomerulopathy for which no underlying cause has been identified. Collapsing glomerulopathy for which no underlying cause has been identified. C120887 Glomerulopathy C90259 NICHD Terminology C123114 Secondary Collapsing Glomerulopathy Secondary Collapsing Glomerulopathy Collapsing glomerulopathy for which an underlying cause has been identified. Collapsing glomerulopathy for which an underlying cause has been identified. C120887 Glomerulopathy C90259 NICHD Terminology C123115 Systemic Lupus Erythematosus Nephritis Class I Systemic Lupus Erythematosus Nephritis Class I Minimal Mesangial Lupus Nephritis Systemic lupus erythematosus nephritis that appears normal under light microscopy, but with evidence of immune deposits by immunofluorescence. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) Systemic lupus erythematosus nephritis that appears normal under light microscopy, but with evidence of immune deposits by immunofluorescence. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) C34789 Lupus Glomerulonephritis C90259 NICHD Terminology C123116 Systemic Lupus Erythematosus Nephritis Class II Systemic Lupus Erythematosus Nephritis Class II Mesangial Proliferative Lupus Nephritis Systemic lupus erythematosus nephritis exhibiting mesangial hypercellularity or mesangial expansion by light microscopy, with mesangial immune deposits. Isolated subepithelial or subendothelial deposits may be visible by immunofluorescence or electron microscopy, but not by light microscopy. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) Systemic lupus erythematosus nephritis exhibiting mesangial hypercellularity or mesangial expansion by light microscopy, with mesangial immune deposits. Isolated subepithelial or subendothelial deposits may be visible by immunofluorescence or electron microscopy, but not by light microscopy. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) C34789 Lupus Glomerulonephritis C90259 NICHD Terminology C123117 Systemic Lupus Erythematosus Nephritis Class III Systemic Lupus Erythematosus Nephritis Class III Focal Lupus Nephritis Systemic lupus erythematosus nephritis with active of inactive focal, segmental or global endo- or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits with or without mesangial alterations. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) Systemic lupus erythematosus nephritis with active of inactive focal, segmental or global endo- or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits with or without mesangial alterations. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) C34789 Lupus Glomerulonephritis C90259 NICHD Terminology C123118 Systemic Lupus Erythematosus Nephritis Class IV Systemic Lupus Erythematosus Nephritis Class IV Diffuse Lupus Nephritis Systemic lupus erythematosus nephritis, with active or inactive diffuse, segmental or global endo- or extracapillary glomerulonephritis involving greater than or equal to 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) Systemic lupus erythematosus nephritis, with active or inactive diffuse, segmental or global endo- or extracapillary glomerulonephritis involving greater than or equal to 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) C34789 Lupus Glomerulonephritis C90259 NICHD Terminology C123119 Systemic Lupus Erythematosus Nephritis Class IV G Systemic Lupus Erythematosus Nephritis Class IV G Systemic lupus erythematosus nephritis, characterized by active or inactive diffuse, global endo- or extracapillary glomerulonephritis that involves 50% or more of all glomeruli. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) Systemic lupus erythematosus nephritis, characterized by active or inactive diffuse, global endo- or extracapillary glomerulonephritis that involves 50% or more of all glomeruli. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) C34789 Lupus Glomerulonephritis C90259 NICHD Terminology C123120 Systemic Lupus Erythematosus Nephritis Class IV S Systemic Lupus Erythematosus Nephritis Class IV S Systemic lupus erythematosus nephritis characterized by active or inactive diffuse, segmental endo- or extracapillary glomerulonephritis that involves 50% or more of all glomeruli. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) Systemic lupus erythematosus nephritis characterized by active or inactive diffuse, segmental endo- or extracapillary glomerulonephritis that involves 50% or more of all glomeruli. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) C34789 Lupus Glomerulonephritis C90259 NICHD Terminology C123121 Systemic Lupus Erythematosus Nephritis Class V Systemic Lupus Erythematosus Nephritis Class V Systemic lupus erythematosus nephritis, with global or segmental subepithelial immune deposits or their morphologic sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) Systemic lupus erythematosus nephritis, with global or segmental subepithelial immune deposits or their morphologic sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) C34789 Lupus Glomerulonephritis C90259 NICHD Terminology C123122 Systemic Lupus Erythematosus Nephritis Class VI Systemic Lupus Erythematosus Nephritis Class VI Advanced Sclerotic Lupus Nephritis Systemic lupus erythematosus nephritis, with 90% or more of glomeruli globally sclerosed without residual activity. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) Systemic lupus erythematosus nephritis, with 90% or more of glomeruli globally sclerosed without residual activity. (Weening, Jan J. et al. (2004). The Classification of Glomerulonephritis in Systemic Lupus Erythematosus Revisited. Journal of the American Society of Nephrology 15(2), 241-50.) C34789 Lupus Glomerulonephritis C90259 NICHD Terminology C123123 Tip Lesion Glomerulopathy Tip Lesion Glomerulopathy Segmental glomerulopathy of localized intracapillary foam cells with adjacent, often vacuolated glomerular epithelial cells confluent to the origin of the proximal tubule. Segmental glomerulopathy of localized intracapillary foam cells with adjacent, often vacuolated glomerular epithelial cells confluent to the origin of the proximal tubule. C120887 Glomerulopathy C90259 NICHD Terminology C123124 Nephrotic Syndrome-Remission, Partial Remission Nephrotic Syndrome-Remission, Partial Remission Partial Remission Nephrotic Syndrome Remission Nephrotic syndrome in which proteinuria has decreased by at least 50% and below the nephrotic range cutoff from disease onset, but does not normalize following a defined course of treatment. Nephrotic syndrome in which proteinuria has decreased by at least 50% and below the nephrotic range cutoff from disease onset, but does not normalize following a defined course of treatment. C34845 Nephrotic Syndrome C90259 NICHD Terminology C123125 Antimicrobial - Induced Nephropathy Antimicrobial - Induced Nephropathy Kidney damage resulting from exposure to antimicrobials. Kidney damage resulting from exposure to antimicrobials. C114583 Drug-Induced Kidney Injury C90259 NICHD Terminology C123126 Bisphosphonate - Induced Nephropathy Bisphosphonate - Induced Nephropathy Kidney damage resulting from exposure to bisphosphonates. Kidney damage resulting from exposure to bisphosphonates. C114583 Drug-Induced Kidney Injury C90259 NICHD Terminology C123127 Calcineurin Inhibitor - Induced Nephropathy Calcineurin Inhibitor - Induced Nephropathy Kidney damage resulting from exposure to calcineurin inhibitors. Kidney damage resulting from exposure to calcineurin inhibitors. C114583 Drug-Induced Kidney Injury C90259 NICHD Terminology C123128 Chemotherapeutic Drug - Induced Nephropathy Chemotherapeutic Drug - Induced Nephropathy Kidney damage resulting from exposure to chemotherapeutic drugs. Kidney damage resulting from exposure to chemotherapeutic drugs. C114583 Drug-Induced Kidney Injury C90259 NICHD Terminology C123129 Contrast - Induced Nephropathy Contrast - Induced Nephropathy Kidney damage resulting from exposure to contrast agents. Kidney damage resulting from exposure to contrast agents. C114583 Drug-Induced Kidney Injury C90259 NICHD Terminology C123130 Lithium - Induced Nephropathy Lithium - Induced Nephropathy Kidney damage resulting from lithium which may include distal or collecting tubular cysts, proteinuria, interstitial nephritis and nephrogenic diabetes insipidus. Kidney damage resulting from lithium which may include distal or collecting tubular cysts, proteinuria, interstitial nephritis and nephrogenic diabetes insipidus. C114583 Drug-Induced Kidney Injury C90259 NICHD Terminology C123131 mTOR Inhibitor - Induced Nephropathy mTOR Inhibitor - Induced Nephropathy Kidney damage resulting from exposure to mechanistic target of rapamycin (mTOR) kinase inhibitors. Kidney damage resulting from exposure to mechanistic target of rapamycin (mTOR) kinase inhibitors. C114583 Drug-Induced Kidney Injury C90259 NICHD Terminology C123132 Nephropathy due to Aminoglycosides Nephropathy due to Aminoglycosides Kidney damage resulting from aminoglycosides. Kidney damage resulting from aminoglycosides. C114583 Drug-Induced Kidney Injury C90259 NICHD Terminology C123133 Nephropathy due to Amphotericin Nephropathy due to Amphotericin Kidney damage resulting from amphotericin. Kidney damage resulting from amphotericin. C114583 Drug-Induced Kidney Injury C90259 NICHD Terminology C123134 Nephropathy due to Analgesic Drugs Nephropathy due to Analgesic Drugs Kidney damage resulting from analgesic drugs. Kidney damage resulting from analgesic drugs. C114583 Drug-Induced Kidney Injury C90259 NICHD Terminology C123135 Nephropathy due to Ciclosporin Nephropathy due to Ciclosporin Kidney damage resulting from ciclosporin. Kidney damage resulting from ciclosporin. C114583 Drug-Induced Kidney Injury C90259 NICHD Terminology C123136 Nephropathy due to Cisplatin Nephropathy due to Cisplatin Kidney damage resulting from cisplatin. Kidney damage resulting from cisplatin. C114583 Drug-Induced Kidney Injury C90259 NICHD Terminology C123137 Nephropathy due to Tacrolimus Nephropathy due to Tacrolimus Kidney damage resulting from tacrolimus. Kidney damage resulting from tacrolimus. C114583 Drug-Induced Kidney Injury C90259 NICHD Terminology C123138 NSAID-Induced Nephropathy NSAID-Induced Nephropathy Non-steroidal Anti-inflammatory Drug-Induced Nephropathy Kidney damage resulting from exposure to non-steroidal anti-inflammatory drugs (NSAIDs). Kidney damage resulting from exposure to non-steroidal anti-inflammatory drugs (NSAIDs). C114583 Drug-Induced Kidney Injury C90259 NICHD Terminology C123139 Focal Segmental Glomerulosclerosis, Not Otherwise Specified Focal Segmental Glomerulosclerosis, Not Otherwise Specified FSGS || FSGS (NOS) || Focal Segmental Glomerulosclerosis (NOS) Segmental scarring of the glomerulus, which may result in isolated proteinuria or nephrotic syndrome, which affects only part of the glomerulus and only some of the glomeruli. Additionally, the Not Otherwise Specified classification excludes FSGS tip, perihilar, collapsing, and cellular variants. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.) Segmental scarring of the glomerulus, which may result in isolated proteinuria or nephrotic syndrome, which affects only part of the glomerulus and only some of the glomeruli. Additionally, the Not Otherwise Specified classification excludes FSGS tip, perihilar, collapsing, and cellular variants. (D'Agati VD, et al. "Pathologic Classification of Focal Segmental Glomerulosclerosis: A Working Proposal." Am J Kidney Dis 43.2 (2004): 368-82.) C37308 Focal Segmental Glomerulosclerosis C90259 NICHD Terminology C123140 IgA Nephropathy, Familal IgA Nephropathy, Familial IgA nephropathy secondary to a genetic mutation that is transmitted from parents to offspring. IgA nephropathy secondary to a genetic mutation that is transmitted from parents to offspring. C34643 IgA Nephropathy C90259 NICHD Terminology C123141 IgA Nephropathy, Infection-associated IgA Nephropathy, Infection-associated IgA nephropathy co-occurring with infectious disease. IgA nephropathy co-occurring with infectious disease. C34643 IgA Nephropathy C90259 NICHD Terminology C123142 Enteric Hyperoxaluria Enteric Hyperoxaluria Excessive urinary oxalate excretion resulting from increased absorption of oxalate. Excessive urinary oxalate excretion resulting from increased absorption of oxalate. C3367 Finding C90259 NICHD Terminology C123155 Antenatal Hydronephrosis Antenatal Hydronephrosis Prenatal Hydronephrosis Hydronephrosis that occurs in a fetus. Hydronephrosis that occurs in a fetus. C26796 Hydronephrosis C90259 NICHD Terminology C123157 Congenital Urinary Tract Obstruction Congenital Urinary Tract Obstruction An impediment to the flow of urine along the urinary tract, which is present at birth. An impediment to the flow of urine along the urinary tract, which is present at birth. C79805 Urinary Tract Obstruction C90259 NICHD Terminology C123158 Primary Hyperoxaluria Primary Hyperoxaluria A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria. A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria. C3101 Genetic Disorder C90259 NICHD Terminology C123159 Ureterocele Ureterocele A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra. A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra. C27148 Ureter Disorder C90259 NICHD Terminology C123161 Megaureter Megaureter Enlargement of the diameter of the ureter, which can be partial or complete. Enlargement of the diameter of the ureter, which can be partial or complete. C27148 Ureter Disorder C90259 NICHD Terminology C123162 Voiding Disorders Voiding Disorders A group of conditions comprising dysfunction of the storage and elimination of urine. A group of conditions comprising dysfunction of the storage and elimination of urine. C2900 Bladder Disorder C90259 NICHD Terminology C123163 Acute Cortical Necrosis Acute Cortical Necrosis Acute kidney injury caused by ischemic necrosis of the renal cortex. Acute kidney injury caused by ischemic necrosis of the renal cortex. C26808 Acute Kidney Injury C90259 NICHD Terminology C123164 A1 Hydronephrosis A1 Hydronephrosis Antenatal hydronephrosis with the following clinical findings: 1) an anterior-posterior renal pelvis diameter (APRPD) of 4 to less than 7 mm at less than 28 weeks, 2) to less than10 mm at greater than or equal to 28 weeks, and 3) may have central calyceal dilation. (Adapted from: Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne Chow, Beverly Coleman, Christopher Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony O. Odibo, Michael J.G. Somers, Deborah R. Stein; Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system); Pediatric Urology; December 2014 Volume 10, Issue 6, Pages 982-998) Antenatal hydronephrosis with the following clinical findings: 1) an anterior-posterior renal pelvis diameter (APRPD) of 4 to less than 7 mm at less than 28 weeks, 2) to less than10 mm at greater than or equal to 28 weeks, and 3) may have central calyceal dilation. (Adapted from: Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne Chow, Beverly Coleman, Christopher Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony O. Odibo, Michael J.G. Somers, Deborah R. Stein; Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system); Pediatric Urology; December 2014 Volume 10, Issue 6, Pages 982-998) C123155 Antenatal Hydronephrosis C90259 NICHD Terminology C123165 A2/3 Hydronephrosis A2/3 Hydronephrosis Antenatal hydronephrosis with the following clinical findings: 1) an anterior-posterior renal pelvis diameter (APRPD) of greater than or equal to 7mm at less than 28 weeks, 2) greater than or equal to10 mm at greater than or equal to 28 weeks, or 3) any one of the following findings: a)dilation of peripheral calyces, b) abnormal parenchymal thickness or appearance, c) visibly dilated ureter, d) an abnormal bladder, or e) the presence of oligohydramnios suspected to be related to the urinary tract. (Adapted from: Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne Chow, Beverly Coleman, Christopher Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony O. Odibo, Michael J.G. Somers, Deborah R. Stein; Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system); Pediatric Urology; December 2014 Volume 10, Issue 6, Pages 982-998) Antenatal hydronephrosis with the following clinical findings: 1) an anterior-posterior renal pelvis diameter (APRPD) of greater than or equal to 7mm at less than 28 weeks, 2) greater than or equal to10 mm at greater than or equal to 28 weeks, or 3) any one of the following findings: a)dilation of peripheral calyces, b) abnormal parenchymal thickness or appearance, c) visibly dilated ureter, d) an abnormal bladder, or e) the presence of oligohydramnios suspected to be related to the urinary tract. (Adapted from: Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne Chow, Beverly Coleman, Christopher Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony O. Odibo, Michael J.G. Somers, Deborah R. Stein; Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system); Pediatric Urology; December 2014 Volume 10, Issue 6, Pages 982-998) C123155 Antenatal Hydronephrosis C90259 NICHD Terminology C123166 Autosomal Dominant Polycystic Kidney Disease Type 2 Autosomal Dominant Polycystic Kidney Disease Type 2 Autosomal dominant polycystic kidney disease caused by a mutation in PKD2. Autosomal dominant polycystic kidney disease caused by a mutation in PKD2. C84578 Autosomal Dominant Polycystic Kidney Disease C90259 NICHD Terminology C123167 Autosomal Dominant Polycystic Kidney Disease Type I Autosomal Dominant Polycystic Kidney Disease Type I Autosomal dominant polycystic kidney disease caused by a mutation in PKD1. Autosomal dominant polycystic kidney disease caused by a mutation in PKD1. C84578 Autosomal Dominant Polycystic Kidney Disease C90259 NICHD Terminology C123168 Congenital Ureteropelvic Junction Obstruction Congenital Ureteropelvic Junction Obstruction Complete or partial blockage of the ureter at the point where it enters the kidney that is present at birth. Complete or partial blockage of the ureter at the point where it enters the kidney that is present at birth. C123157 Congenital Urinary Tract Obstruction C90259 NICHD Terminology C123169 Congenital Ureterovesical Junction Obstruction Congenital Ureterovesical Junction Obstruction Congenital Vesicoureteral Obstruction Complete or partial blockage of the ureter at the point where it enters the bladder that is present at birth. Complete or partial blockage of the ureter at the point where it enters the bladder that is present at birth. C123157 Congenital Urinary Tract Obstruction C90259 NICHD Terminology C123170 Complex Cyst of Kidney Complex Cyst of Kidney A heterogeneous and/or septated cyst located in the kidney. A heterogeneous and/or septated cyst located in the kidney. C34750 Cystic Kidney Disease C90259 NICHD Terminology C123171 Medullary Cystic Kidney Disease Type I Medullary Cystic Kidney Disease Type I Autosomal Dominant Interstitial Kidney Disease An inherited form of cystic kidney disease that leads to fibrosis and impaired renal function as a result of defects in the MUC1 gene, which encodes mucin 1. An inherited form of cystic kidney disease that leads to fibrosis and impaired renal function as a result of defects in the MUC1 gene, which encodes mucin 1. C34750 Cystic Kidney Disease C90259 NICHD Terminology C123172 Medullary Cystic Kidney Disease Type II Medullary Cystic Kidney Disease Type II An inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein. An inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein. C34750 Cystic Kidney Disease C90259 NICHD Terminology C123173 Simple Cyst of Kidney Simple Cyst of Kidney A homogenous cyst located in the kidney. A homogenous cyst located in the kidney. C34750 Cystic Kidney Disease C90259 NICHD Terminology C123174 Radiation Cystitis Radiation Cystitis Inflammation of the bladder due to irradiation. Inflammation of the bladder due to irradiation. C26738 Cystitis C90259 NICHD Terminology C123175 Trigonitis Trigonitis Inflammation of the trigone of the urinary bladder. Inflammation of the trigone of the urinary bladder. C26738 Cystitis C90259 NICHD Terminology C123176 Urethrotrigonitis Urethrotrigonitis Inflammation of both the urethra and the trigone of the urinary bladder. Inflammation of both the urethra and the trigone of the urinary bladder. C26738 Cystitis C90259 NICHD Terminology C123177 Continent Epispadias Continent Epispadias Epispadias with urinary continence. Epispadias with urinary continence. C98923 Epispadias C90259 NICHD Terminology C123178 Incontinent Epispadias Incontinent Epispadias Epispadias with urinary incontinence. Epispadias with urinary incontinence. C98923 Epispadias C90259 NICHD Terminology C123179 Cryoglobulinemic Glomerulonephritis Secondary to Systemic Disease Cryoglobulinemic Glomerulonephritis Secondary to Systemic Disease Cryoglobulinemia glomerulonephritis associated with chronic disease, often inflammatory conditions. Cryoglobulinemia glomerulonephritis associated with chronic disease, often inflammatory conditions. C26784 Glomerulonephritis C90259 NICHD Terminology C123180 Focal and Segmental Proliferative Glomerulonephritis Focal and Segmental Proliferative Glomerulonephritis Glomerulonephritis characterized by proliferation of endothelial or mesangial cells, affecting the glomeruli in a focal and segmental pattern. Glomerulonephritis characterized by proliferation of endothelial or mesangial cells, affecting the glomeruli in a focal and segmental pattern. C26784 Glomerulonephritis C90259 NICHD Terminology C123181 Henoch-Schönlein Purpura Nephritis Henoch-Schönlein Purpura Nephritis Glomerulonephritis in the context of Henoch-Schönlein purpura. Glomerulonephritis in the context of Henoch-Schönlein purpura. C26833 Nephritis C90259 NICHD Terminology C123182 Terminal Hematuria Terminal Hematuria Gross hematuria that occurs at the end of, or immediately after voiding. Gross hematuria that occurs at the end of, or immediately after voiding. C3090 Hematuria C90259 NICHD Terminology C123183 P1 Hydronephrosis P1 Hydronephrosis Postnatal Hydronephrosis with the following clinical findings: 1) APRPD is 10 to less than 15 mm, 2) central calyceal dilation may be present, but peripheral calyceal dilation is considered to increase risk, 3) renal parenchyma should have normal thickness and appearance, 4) the ureter is not seen, and 5) the bladder is normal. If there is central calyceal dilation but the APRPD is less than 10 mm, it is still considered UTD P1. (Adapted from: Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne Chow, Beverly Coleman, Christopher Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony O. Odibo, Michael J.G. Somers, Deborah R. Stein; Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system); Pediatric Urology; December 2014 Volume 10, Issue 6, Pages 982-998) Postnatal Hydronephrosis with the following clinical findings: 1) APRPD is 10 to less than 15 mm, 2) central calyceal dilation may be present, but peripheral calyceal dilation is considered to increase risk, 3) renal parenchyma should have normal thickness and appearance, 4) the ureter is not seen, and 5) the bladder is normal. If there is central calyceal dilation but the APRPD is less than 10 mm, it is still considered UTD P1. (Adapted from: Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne Chow, Beverly Coleman, Christopher Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony O. Odibo, Michael J.G. Somers, Deborah R. Stein; Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system); Pediatric Urology; December 2014 Volume 10, Issue 6, Pages 982-998) C26796 Hydronephrosis C90259 NICHD Terminology C123184 P2 Hydronephrosis P2 Hydronephrosis Postnatal Hydronephrosis with the following clinical findings: 1) APRPD is greater than or equal to 15 mm, 2) the calyces may be dilated centrally and peripherally, 3) or a dilated ureter is visible, 4) the parenchymal thickness and appearance is normal, and 5) the bladder is normal. Cases in which there is peripheral calyceal dilation but the APRPD is less than 15 mm are classified as UTD P2. (Adapted from: Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne Chow, Beverly Coleman, Christopher Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony O. Odibo, Michael J.G. Somers, Deborah R. Stein; Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system); Pediatric Urology; December 2014 Volume 10, Issue 6, Pages 982-998) Postnatal Hydronephrosis with the following clinical findings: 1) APRPD is greater than or equal to 15 mm, 2) the calyces may be dilated centrally and peripherally, 3) or a dilated ureter is visible, 4) the parenchymal thickness and appearance is normal, and 5) the bladder is normal. Cases in which there is peripheral calyceal dilation but the APRPD is less than 15 mm are classified as UTD P2. (Adapted from: Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne Chow, Beverly Coleman, Christopher Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony O. Odibo, Michael J.G. Somers, Deborah R. Stein; Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system); Pediatric Urology; December 2014 Volume 10, Issue 6, Pages 982-998) C26796 Hydronephrosis C90259 NICHD Terminology C123185 P3 Hydronephrosis P3 Hydronephrosis Postnatal Hydronephrosis with the following clinical findings: 1) calyceal dilation and the ureter are the same as those in UTD P2, 2) the renal parenchymal is thinned, has increased echogenicity and/or has decreased corticomedullary differentiation, or 3) the bladder is abnormal (wall thickening, ureterocele, posterior urethral dilation). Cases in which there are parenchymal abnormalities but the APRPD is less than 15 mm, are classified as UTD P3. (Adapted from: Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne Chow, Beverly Coleman, Christopher Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony O. Odibo, Michael J.G. Somers, Deborah R. Stein; Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system); Pediatric Urology; December 2014 Volume 10, Issue 6, Pages 982-998) Postnatal Hydronephrosis with the following clinical findings: 1) calyceal dilation and the ureter are the same as those in UTD P2, 2) the renal parenchymal is thinned, has increased echogenicity and/or has decreased corticomedullary differentiation, or 3) the bladder is abnormal (wall thickening, ureterocele, posterior urethral dilation). Cases in which there are parenchymal abnormalities but the APRPD is less than 15 mm, are classified as UTD P3. (Adapted from: Hiep T. Nguyen, Carol B. Benson, Bryann Bromley, Jeffrey B. Campbell, Jeanne Chow, Beverly Coleman, Christopher Cooper, Jude Crino, Kassa Darge, C.D. Anthony Herndon, Anthony O. Odibo, Michael J.G. Somers, Deborah R. Stein; Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system); Pediatric Urology; December 2014 Volume 10, Issue 6, Pages 982-998) C26796 Hydronephrosis C90259 NICHD Terminology C123186 Autosomal Dominant Hypophosphatemia Rickets Autosomal Dominant Hypophosphatemic Rickets Autosomal Dominant Vitamin D-resistant Rickets An autosomal dominant renal phosphate wasting disorder that results in rickets. Hypophosphatemic rickets due to heterozygous mutation(s) in the FGF23 gene, encoding fibroblast growth factor 23, a protein involved in phosphate homeostasis. The altered protein is resistant to cleavage, resulting in elevated FGF23 concentrations; the condition is characterized by isolated renal phosphate wasting, resulting in hypophosphatemia, accompanied by inappropriately normal 1,25-dihydroxyvitamin D (calcitriol) concentrations. C37977 Hypophosphatemia C90259 NICHD Terminology C123187 Autosomal Recessive Hypophosphatemia Rickets Autosomal Recessive Hypophosphatemic Rickets An autosomal recessive renal phosphate wasting disorder that results in rickets. Hypophosphatemic rickets due to inactivating mutation(s) in the DMP1 gene, encoding dentin matrix acidic phosphoprotein 1, or in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D (calcitriol) levels. C37977 Hypophosphatemia C90259 NICHD Terminology C123188 Megacystis - Megaureter Megacystis - Megaureter A condition characterized by a large capacity, thin-walled bladder and megaureter(s). A condition characterized by a large capacity, thin-walled bladder and megaureter(s). C123161 Megaureter C90259 NICHD Terminology C123189 Non-Obstructed Megaureter Non-Obstructed Megaureter A megaureter in which there is no obstruction at the ureterovesical junction. A megaureter in which there is no obstruction at the ureterovesical junction. C123161 Megaureter C90259 NICHD Terminology C123190 Non-Obstructed Non-Refluxing Megaureter Non-Obstructed Non-Refluxing Megaureter A megaureter in which there is no obstruction at the ureterovesical junction and no vesicoureteral reflux. A megaureter in which there is no obstruction at the ureterovesical junction and no vesicoureteral reflux. C123161 Megaureter C90259 NICHD Terminology C123191 Obstructed Megaureter Obstructed Megaureter A megaureter in which there is obstruction to the flow of urine at the ureterovesical junction. A megaureter in which there is obstruction to the flow of urine at the ureterovesical junction. C123161 Megaureter C90259 NICHD Terminology C123192 Refluxing Megaureter Refluxing Megaureter Refluxing Non-Obstructed Megaureter A megaureter that demonstrates retrograde urine flow without ureteral obstruction. A megaureter that demonstrates retrograde urine flow without ureteral obstruction. C123161 Megaureter C90259 NICHD Terminology C123193 Refluxing Obstructed Megaureter Refluxing Obstructed Megaureter A megaureter in which there is retrograde flow of urine and a concomitant, episodic obstruction resulting from ureteral folding. A megaureter in which there is retrograde flow of urine and a concomitant, episodic obstruction resulting from ureteral folding. C123161 Megaureter C90259 NICHD Terminology C123194 Calyceal Diverticulum Calyceal Diverticulum An out-pouching of the calyx into the renal parenchyma. An out-pouching of the calyx into the renal parenchyma. C34843 Nephropathy C90259 NICHD Terminology C123195 Idiopathic Renal Papillary Necrosis Idiopathic Renal Papillary Necrosis Necrosis of the renal papillae, for which no underlying cause has been identified. Necrosis of the renal papillae, for which no underlying cause has been identified. C34843 Nephropathy C90259 NICHD Terminology C123196 Ischemic Nephropathy Ischemic Nephropathy Nephropathy due to hypoperfusion of the kidney. Nephropathy due to hypoperfusion of the kidney. C34843 Nephropathy C90259 NICHD Terminology C123197 Malignant Hypertensive Nephropathy Malignant Hypertensive Nephropathy Accelerated Hypertensive Nephropathy Hypertensive nephropathy secondary to malignant hypertension. Hypertensive nephropathy secondary to malignant hypertension. C34843 Nephropathy C90259 NICHD Terminology C123198 Megacalycosis Megacalycosis Isolated enlargement of renal calyces without obstruction. Isolated enlargement of renal calyces without obstruction. C34843 Nephropathy C90259 NICHD Terminology C123199 Nephritic Syndrome Nephritic Syndrome A syndrome characterized by hematuria with dysmorphic red blood cells, red blood cell casts, and proteinuria; systemic manifestations may be present, including hypertension, edema, oliguria. A syndrome characterized by hematuria with dysmorphic red blood cells, red blood cell casts, and proteinuria; systemic manifestations may be present, including hypertension, edema, oliguria. C34843 Nephropathy C90259 NICHD Terminology C123200 Nephronophthisis Nephronophthisis Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure. Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure. C34843 Nephropathy C90259 NICHD Terminology C123201 Nephropathy Associated with Rhabdomyolysis Nephropathy Associated with Rhabdomyolysis Nephropathy associated with rhabdomyolysis. Nephropathy associated with rhabdomyolysis. C34843 Nephropathy C90259 NICHD Terminology C123202 Oligomeganephronia Oligomeganephronia Congenital renal hypoplasia characterized by small kidneys; reduced nephron number; tubular and glomerular hypertrophy. Congenital renal hypoplasia characterized by small kidneys; reduced nephron number; tubular and glomerular hypertrophy. C34843 Nephropathy C90259 NICHD Terminology C123203 Sickle Cell Nephropathy Sickle Cell Nephropathy Nephropathy secondary to sickle cell disease, characterized by the presence of sickled erythrocytes in the renal medullary vessels, renal ischemia and microinfarctions, renal papillary necrosis, and renal tubular abnormalities. Nephropathy secondary to sickle cell disease, characterized by the presence of sickled erythrocytes in the renal medullary vessels, renal ischemia and microinfarctions, renal papillary necrosis, and renal tubular abnormalities. C34843 Nephropathy C90259 NICHD Terminology C123204 Acquired Neurogenic Bladder Acquired Neurogenic Bladder Neurogenic bladder, the cause of which is not present at birth. Neurogenic bladder, the cause of which is not present at birth. C79696 Neurogenic Bladder C90259 NICHD Terminology C123205 Congenital Neurogenic Bladder Congenital Neurogenic Bladder Neurogenic bladder, the cause of which is present at birth. Neurogenic bladder, the cause of which is present at birth. C79696 Neurogenic Bladder C90259 NICHD Terminology C123206 Non-Neurogenic Neurogenic Bladder Non-Neurogenic Neurogenic Bladder Hinman Syndrome Bladder sphincter dysfunction in an individual with normal bladder innervation, which may lead to renal impairment. Bladder sphincter dysfunction in an individual with normal bladder innervation, which may lead to renal impairment. C79696 Neurogenic Bladder C90259 NICHD Terminology C123207 Bladder Exstrophy Bladder Exstrophy Ectopia Vesicae A congenital anomaly that involves the protrusion of the exstrophied bladder through the abdominal wall. It is an anomaly that exists along the exstrophy-epispadias complex, which frequently includes urethra exstrophy, separation of the pubic symphysis, external rotation of the pelvic bones, and opening of the puborectal sling and sphincters. A congenital anomaly that involves the protrusion of the exstrophied bladder through the abdominal wall. It is an anomaly that exists along the exstrophy-epispadias complex, which frequently includes urethra exstrophy, separation of the pubic symphysis, external rotation of the pelvic bones, and opening of the puborectal sling and sphincters. C2900 Bladder Disorder C90259 NICHD Terminology C123208 Bladder Sphincter Dysfunction Bladder Sphincter Dysfunction Detrusor Sphincter Dysynergia Non-coordinated, reflexive contraction of the bladder and sphincter relaxation. Non-coordinated, reflexive contraction of the bladder and sphincter relaxation. C2900 Bladder Disorder C90259 NICHD Terminology C123209 Hutch Diverticulum Hutch Diverticulum A congenital out pouching of the bladder involving the ureteral hiatus. A congenital out pouching of the bladder involving the ureteral hiatus. C2900 Bladder Disorder C90259 NICHD Terminology C123210 Posterior Urethral Valves Type 1 Posterior Urethral Valves Type 1 A posterior urethral valve extending from the vera montanum towards the distal meatus. A posterior urethral valve extending from the vera montanum towards the distal meatus. C99021 Posterior Urethral Valve C90259 NICHD Terminology C123211 Posterior Urethral Valves Type 3 Posterior Urethral Valves Type 3 A posterior urethral valve, presumed to result from incomplete canalization of the urethra, that is located immediately distal to the vera montanum. A posterior urethral valve, presumed to result from incomplete canalization of the urethra, that is located immediately distal to the vera montanum. C99021 Posterior Urethral Valve C90259 NICHD Terminology C123212 Primary Hyperoxaluria Type I Primary Hyperoxaluria Type I Recessively inherited primary hyperoxaluria due to alanine-glyoxylate aminotransferase (AGXT) deficiency. Recessively inherited primary hyperoxaluria due to alanine-glyoxylate aminotransferase (AGXT) deficiency. C123158 Primary Hyperoxaluria C90259 NICHD Terminology C123213 Primary Hyperoxaluria Type II Primary Hyperoxaluria Type II Recessively inherited primary hyperoxaluria due to glyoxylate reductase/hydroxypyruvate reductase (GRHPR) deficiency. Recessively inherited primary hyperoxaluria due to glyoxylate reductase/hydroxypyruvate reductase (GRHPR) deficiency. C123158 Primary Hyperoxaluria C90259 NICHD Terminology C123214 Primary Hyperoxaluria Type III Primary Hyperoxaluria Type III Recessively inherited primary hyperoxaluria due to mitochondrial 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene mutations. Recessively inherited primary hyperoxaluria due to mitochondrial 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene mutations. C123158 Primary Hyperoxaluria C90259 NICHD Terminology C123215 Acute Pyelonephritis Acute Pyelonephritis Sudden onset pyelonephritis. Sudden onset pyelonephritis. C34965 Pyelonephritis C90259 NICHD Terminology C123216 Chronic Pyelonephritis Chronic Pyelonephritis Persistent pyelonephritis. Persistent pyelonephritis. C34965 Pyelonephritis C90259 NICHD Terminology C123217 Distal Renal Tubular Acidosis Distal Renal Tubular Acidosis Failure of the renal tubules of the kidney to excrete urine of sufficient acidity, resulting in metabolic acidosis. Failure of the renal tubules of the kidney to excrete urine of sufficient acidity, resulting in metabolic acidosis. C28129 Renal Tubular Acidosis C90259 NICHD Terminology C123218 Proximal Renal Tubular Acidosis Proximal Renal Tubular Acidosis Type II Renal Tubular Acidosis Impairment in renal proximal tubule bicarbonate reabsorption that results in a hypokalemic hyperchloremic metabolic acidosis, which is most commonly associated with renal Fanconi syndrome. Impairment in renal proximal tubule bicarbonate reabsorption that results in a hypokalemic hyperchloremic metabolic acidosis, which is most commonly associated with renal Fanconi syndrome. C28129 Renal Tubular Acidosis C90259 NICHD Terminology C123219 Renal Tubular Acidosis Associated With Deafness Renal Tubular Acidosis Associated With Deafness Renal tubular acidosis associated with sensorineural hearing loss, and which is typically associated with recessive mutations. Renal tubular acidosis associated with sensorineural hearing loss, and which is typically associated with recessive mutations. C28129 Renal Tubular Acidosis C90259 NICHD Terminology C123220 Type I Renal Tubular Acidosis Type I Renal Tubular Acidosis Impairment in renal collecting tubule acid secretion that results in a hypokalemic hyperchloremic metabolic acidosis. Impairment in renal collecting tubule acid secretion that results in a hypokalemic hyperchloremic metabolic acidosis. C28129 Renal Tubular Acidosis C90259 NICHD Terminology C123221 Renal Artery Stenosis Renal Artery Stenosis Narrowing of a main artery in the kidney. Narrowing of a main artery in the kidney. C3149 Kidney Disease C90259 NICHD Terminology C123222 Renal Artery Thrombosis Renal Artery Thrombosis The formation of a thrombus in the renal artery. The formation of a thrombus in the renal artery. C3149 Kidney Disease C90259 NICHD Terminology C123223 Atypical Hemolytic Uremic Syndrome Atypical Hemolytic Uremic Syndrome Non-diarrhea-associated Hemolytic Uremic Syndrome Hemolytic uremic syndrome not associated with shiga toxin-producing enterobacteria. Hemolytic uremic syndrome not associated with shiga toxin-producing enterobacteria. C75545 Hemolytic Uremic Syndrome C90259 NICHD Terminology C123225 Cardiorenal Syndrome Cardiorenal Syndrome A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ. A disorder of the heart and kidneys in which dysfunction of one of the organs induces dysfunction of the other organ. C28193 Syndrome C90259 NICHD Terminology C123226 Diarrhea-associated Hemolytic Uremic Syndrome Diarrhea-associated Hemolytic Uremic Syndrome Hemolytic uremic syndrome caused by gastrointestinal infection, usually with shiga toxin-producing enterobacteria. Hemolytic uremic syndrome caused by gastrointestinal infection, usually with shiga toxin-producing enterobacteria. C28193 Syndrome C90259 NICHD Terminology C123227 Dysfunctional Elimination Syndrome Dysfunctional Elimination Syndrome Pelvic Elimination Syndrome Fecal constipation or impaction resulting in bowel and bladder dysfunction. Fecal constipation or impaction resulting in bowel and bladder dysfunction. C28193 Syndrome C90259 NICHD Terminology C123228 Familial Atypical Hemolytic Uremic Syndrome Familial Atypical Hemolytic Uremic Syndrome Hemolytic uremic syndrome associated with an inherited defect, but which is not associated with shiga toxin-producing enterobacteria. Hemolytic uremic syndrome associated with an inherited defect, but which is not associated with shiga toxin-producing enterobacteria. C28193 Syndrome C90259 NICHD Terminology C123229 Primary Fanconi Syndrome Primary Fanconi Syndrome A genetic disorder characterized by impairment of the function of the proximal tubules of the kidney, which results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients. A genetic disorder characterized by impairment of the function of the proximal tubules of the kidney, which results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients. C28193 Syndrome C90259 NICHD Terminology C123230 Renal Coloboma Syndrome Renal Coloboma Syndrome Papillorenal Syndrome A genetic disorder caused by PAX2 gene mutations that is characterized by renal hypoplasia and a spectrum of congenital anomalies of the eye and urinary tract. A genetic disorder caused by PAX2 gene mutations that is characterized by renal hypoplasia and a spectrum of congenital anomalies of the eye and urinary tract. C28193 Syndrome C90259 NICHD Terminology C123231 Syndrome of Apparent Mineralocorticoid Excess Syndrome of Apparent Mineralocorticoid Excess An autosomal recessive disorder caused by a deficiency of 11-beta-hydroxysteroid dehydrogenase, which is characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism. An autosomal recessive disorder caused by a deficiency of 11-beta-hydroxysteroid dehydrogenase, which is characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism. C28193 Syndrome C90259 NICHD Terminology C123232 Ectopic Ureter Ectopic Ureter A congenital anomaly in which the ureteral orifice drains into an abnormal location. A congenital anomaly in which the ureteral orifice drains into an abnormal location. C27148 Ureter Disorder C90259 NICHD Terminology C123233 Ureter Fissus Ureter Fissus Partial Ureteral Duplication A condition in which two ipsilateral ureters unite and drain into the bladder at a single ureteric orifice. A condition in which two ipsilateral ureters unite and drain into the bladder at a single ureteric orifice. C27148 Ureter Disorder C90259 NICHD Terminology C123234 Ureteral Kinking Ureteral Kinking The folding of a ureter, which results in the impediment of urine flow. The folding of a ureter, which results in the impediment of urine flow. C27148 Ureter Disorder C90259 NICHD Terminology C123235 Cecoureterocele Cecoureterocele A ureterocele in which the orifice is located in the bladder, with the ureterocele pouch extending submucosally into the urethra. A ureterocele in which the orifice is located in the bladder, with the ureterocele pouch extending submucosally into the urethra. C123159 Ureterocele C90259 NICHD Terminology C123236 Ectopic Ureterocele Ectopic Ureterocele A ureterocele in which some portion of the ureterocele is situated permanently at the bladder neck or in the urethra. The orifice may be situated in the bladder, at the bladder neck, or in the urethra. (Adapted from Glassberg KI, Braren V, Duckett JW, Jacobs EC, King LR, Lebowitz RL et al. Suggested terminology for duplex systems, ectopic ureters and ureteroceles. J Urol 1984; 132(6):1153-1154.) A ureterocele in which some portion of the ureterocele is situated permanently at the bladder neck or in the urethra. The orifice may be situated in the bladder, at the bladder neck, or in the urethra. (Adapted from Glassberg KI, Braren V, Duckett JW, Jacobs EC, King LR, Lebowitz RL et al. Suggested terminology for duplex systems, ectopic ureters and ureteroceles. J Urol 1984; 132(6):1153-1154.) C123159 Ureterocele C90259 NICHD Terminology C123237 Intravesical Ureterocele Intravesical Ureterocele Orthotopic Ureterocele A ureterocele that is located entirely within the bladder, and which may be associated with a single system, with the upper pole ureter of a completely duplicated system, or rarely associated with a lower pole ureter. (Adapted from Glassberg KI, Braren V, Duckett JW, Jacobs EC, King LR, Lebowitz RL et al. Suggested terminology for duplex systems, ectopic ureters and ureteroceles. J Urol 1984; 132(6):1153-1154.) A ureterocele that is located entirely within the bladder, and which may be associated with a single system, with the upper pole ureter of a completely duplicated system, or rarely associated with a lower pole ureter. (Adapted from Glassberg KI, Braren V, Duckett JW, Jacobs EC, King LR, Lebowitz RL et al. Suggested terminology for duplex systems, ectopic ureters and ureteroceles. J Urol 1984; 132(6):1153-1154.) C123159 Ureterocele C90259 NICHD Terminology C123238 Obstructive Ureterocele Obstructive Ureterocele Stenotic A ureterocele with a small, obstructive orifice. A ureterocele with a small, obstructive orifice. C123159 Ureterocele C90259 NICHD Terminology C123239 Sphincteric Ureterocele Sphincteric Ureterocele Transsphincteric A ureterocele in which the orifice is distal to the external urinary sphincter. A ureterocele in which the orifice is distal to the external urinary sphincter. C123159 Ureterocele C90259 NICHD Terminology C123240 Decreased Bladder Compliance Decreased Bladder Compliance The loss of elasticity of the bladder wall with increased urine volume. The loss of elasticity of the bladder wall with increased urine volume. C36286 Urinary System Finding C90259 NICHD Terminology C123241 Acquired Urinary Tract Obstruction Acquired Urinary Tract Obstruction A urinary tract obstruction, the cause of which is not present at birth. A urinary tract obstruction, the cause of which is not present at birth. C79805 Urinary Tract Obstruction C90259 NICHD Terminology C123242 Calcium Oxalate Urolithiasis Calcium Oxalate Urolithiasis Urolithiasis in which the composition of the stones is predominantly calcium oxalate. Urolithiasis in which the composition of the stones is predominantly calcium oxalate. C114688 Urolithiasis C90259 NICHD Terminology C123243 Calcium Phosphate Urolithiasis Calcium Phosphate Urolithiasis Urolithiasis in which the composition of the stones is predominantly calcium phosphate. Urolithiasis in which the composition of the stones is predominantly calcium phosphate. C114688 Urolithiasis C90259 NICHD Terminology C123244 Cystine Urolithiasis Cystine Urolithiasis Urolithiasis in which the composition of the stones is predominantly cystine. Urolithiasis in which the composition of the stones is predominantly cystine. C114688 Urolithiasis C90259 NICHD Terminology C123245 Uric Acid Urolithiasis Uric Acid Urolithiasis Urolithiasis in which the composition of the stones is predominantly urate. Urolithiasis in which the composition of the stones is predominantly urate. C114688 Urolithiasis C90259 NICHD Terminology C123246 Urinary Hesitancy Urinary Hesitancy Difficulty in initiating urination. Difficulty in initiating urination. C123162 Voiding Disorders C90259 NICHD Terminology C123247 Urinary Straining Urinary Straining The need to increase intra-abdominal pressure in order to initiate and maintain voiding. The need to increase intra-abdominal pressure in order to initiate and maintain voiding. C123162 Voiding Disorders C90259 NICHD Terminology C123248 Glucocorticoid Suppressible Hyperaldosteronism Glucocorticoid Suppressible Hyperaldosteronism Excessive production of aldosterone and elevation of blood pressure by the adrenal gland, which is regulated by corticotropin. Excessive production of aldosterone and elevation of blood pressure by the adrenal gland, which is regulated by corticotropin. C113213 Hyperaldosteronism C90259 NICHD Terminology C123249 Idiopathic Retroperitoneal Fibrosis Idiopathic Retroperitoneal Fibrosis Ormond's Disease A condition characterized by abnormal proliferation of fibrous tissue in the compartment posterior to the peritoneum, for which no underlying cause has been identified. A condition characterized by abnormal proliferation of fibrous tissue in the compartment posterior to the peritoneum, for which no underlying cause has been identified. C3149 Kidney Disease C90259 NICHD Terminology C123250 Infundibular Stenosis Infundibular Stenosis Infundibular Stenosis of the Calyces of the Kidney Narrowing of the infundibulum to the calyx, which produces an impediment to urine flow. Narrowing of the infundibulum to the calyx, which produces an impediment to urine flow. C34843 Nephropathy C90259 NICHD Terminology C123251 Pseudohypoaldosteronism Type 1 Pseudohypoaldosteronism Type 1 PHA1B || Pseudohypoaldosteronism Type I Autosomal Recessive A hereditary, heterogeneous disorder of electrolyte metabolism that is characterized by renal resistance to aldosterone action, resulting in salt wasting, hypotension, hyperkalemia, and metabolic acidosis. An autosomal recessive condition presenting with hyponatremia and hyperkalemia, which mimics low concentrations of aldosterone, and which is associated with loss-of-function mutation(s) in the SCNN1A, SCNN1B, or SCNN1G genes encoding subunits of the epithelial sodium channel (ENaC). C85034 Pseudohypoaldosteronism C90259 NICHD Terminology C123252 Pseudohypoaldosteronism Type 2 Pseudohypoaldosteronism Type 2 Gordon Syndrome A hereditary renal tubular defect characterized by hypertension and hyperkalemic metabolic acidosis in the presence of suppressed plasma renin levels and relatively low aldosterone levels. A hereditary renal tubular defect characterized by hypertension and hyperkalemic metabolic acidosis in the presence of suppressed plasma renin levels and relatively low aldosterone levels. C85034 Pseudohypoaldosteronism C90259 NICHD Terminology C123253 Pseudotumor of Kidney Pseudotumor of Kidney A parenchymal lesion, which may appear neoplastic in origin, that results from abnormal architecture of the renal calyx. A parenchymal lesion, which may appear neoplastic in origin, that results from abnormal architecture of the renal calyx. C34843 Nephropathy C90259 NICHD Terminology C123254 Urachal Diverticulum Urachal Diverticulum A condition in which the urachus fails to close proximal to the bladder, resulting in a non-detrusor, blind-ending pouch at the dome of the bladder. A condition in which the urachus fails to close proximal to the bladder, resulting in a non-detrusor, blind-ending pouch at the dome of the bladder. C98885 Congenital Urinary System Abnormality C90259 NICHD Terminology C123255 Urachal Remnant Urachal Remnant Remaining collapsed and obliterated urachal tissue between the bladder dome and umbilicus. Remaining collapsed and obliterated urachal tissue between the bladder dome and umbilicus. C98885 Congenital Urinary System Abnormality C90259 NICHD Terminology C123256 Urethral Prolapse Urethral Prolapse Prolapse of the urethral mucosa from the exterior urethral opening. Prolapse of the urethral mucosa from the exterior urethral opening. C36286 Urinary System Finding C90259 NICHD Terminology C123257 Ascending Testicle Ascending Testicle A condition in which a previously descended testicle permanently moves out of the scrotum. A condition in which a previously descended testicle permanently moves out of the scrotum. C26890 Testicular Disorder C90259 NICHD Terminology C123258 Retractile Testicle Retractile Testicle A normal variant in which the testicle may move freely between the scrotum and the groin. A normal variant in which the testicle may move freely between the scrotum and the groin. C26890 Testicular Disorder C90259 NICHD Terminology C123259 Testicular Atrophy Testicular Atrophy Loss of testicular volume. Loss of testicular volume. C26890 Testicular Disorder C90259 NICHD Terminology C12326 Undescended Testes Cryptorchidism Undescended Testes || Undescended Testicle || Undescended Testis The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life. The persistent failure of one or both testes to descend into the scrotum. C103185 Congenital Reproductive System Abnormality C27019 Male Reproductive System Disorder C90259 NICHD Terminology C123260 Dent Disease X-linked Recessive Hypophosphatemic Rickets Dent Disease An X-linked, recessive disorder of the proximal renal tubules that presents during childhood, and is characterized by low-molecular weight proteinuria, hypercalciuria, hypophosphatemia rickets, nephrocalcinosis, nephrolithiasis, and progressive kidney failure. Hypophosphatemic rickets due to mutation(s) in the X-chromosomal CLCN5 gene, encoding H(+)/Cl(-) exchange transporter 5. This condition is expressed in male individuals hemizygous for the mutation(s), and in female individuals homozygous for the mutation(s). The disorder of the proximal renal tubules is characterized by low-molecular weight proteinuria, hypercalciuria, renal phosphate wasting, nephrocalcinosis, nephrolithiasis, progressive kidney failure, and elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations. C3101 Genetic Disorder C90259 NICHD Terminology C123261 Familial Hypercalciuric Hypocalcemia Familial Hypercalciuric Hypocalcemia A hereditary condition caused by calcium sensing receptor gene mutations, resulting in calcium-hypersensitivity, and compensatory hypocalcemia and hypercalciuria. A hereditary condition caused by calcium sensing receptor gene mutations, resulting in calcium-hypersensitivity, and compensatory hypocalcemia and hypercalciuria. C3101 Genetic Disorder C90259 NICHD Terminology C123262 Familial Hypocalciuric Hypercalcemia Familial Hypocalciuric Hypercalcemia Familial Benign Hypercalcemia A hereditary condition caused by calcium sensing receptor gene mutations, resulting in calcium-hyposensitivity, and compensatory hypercalcemia and hypocalciuria. Familial hypocalciuric hypercalcemia types 1,2, and 3 are a group of autosomal dominant conditions due to loss of function mutation(s) of the CASR, GNA11, and AP2S1 genes, respectively. These genes encode the extracellular calcium-sensing receptor, the guanine nucleotide-binding protein subunit alpha-11, and the AP-2 complex subunit sigma. The condition is characterized by inappropriately low urinary calcium excretion and parathyroid hormone concentration in the presence of mild hypercalcemia. C3101 Genetic Disorder C90259 NICHD Terminology C123263 Familial Primary Hypomagnesemia Familial Primary Hypomagnesemia A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration. A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration. C3101 Genetic Disorder C90259 NICHD Terminology C123264 Testicular Hypotrophy Testicular Hypotrophy Less than expected testicular size. Less than expected testicular size. C26890 Testicular Disorder C90259 NICHD Terminology C123265 X-linked Hypophosphatemic Rickets X-linked Hypophosphatemic Rickets An X-linked dominant renal phosphate wasting disorder that results in rickets. An X-linked dominant renal phosphate wasting disorder that results in rickets. C3101 Genetic Disorder C90259 NICHD Terminology C123308 Congenital Myotonic Dystrophy Congenital Myotonic Dystrophy Myotonic dystrophy that is present at birth. C84914 Myotonic Dystrophy C90259 NICHD Terminology C123392 Childhood Lymphomatoid Granulomatosis Childhood Lymphomatoid Granulomatosis Lymphomatoid granulomatosis that occurs during childhood. An Epstein-Barr virus-associated B-cell lymphoproliferative disorder in children that nearly always affects the lungs, with skin involvement in 50% of the cases. Morphologically, three grades are recognized: grade I, II, and III. C26323 Hematologic Disorder C90259 NICHD Terminology C123394 Childhood Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue Childhood Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue Childhood Extranodal Marginal Zone Lymphoma of MALT || Childhood MALToma An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that occurs during childhood. An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that occurs during childhood. C7706 Childhood Non-Hodgkin Lymphoma C90259 NICHD Terminology C123395 Childhood Langerhans Cell Histiocytosis with Risk Organ Involvement Childhood Langerhans Cell Histiocytosis with Risk Organ Involvement Langerhans cell histiocytosis that occurs during childhood and involves the bone marrow, spleen, liver, or lung. Langerhans cell histiocytosis that occurs during childhood, and involves the bone marrow, spleen, liver, or lung. C114483 Childhood Langerhans Cell Histiocytosis C90259 NICHD Terminology C123396 Childhood Langerhans Cell Histiocytosis without Risk Organ Involvement Childhood Langerhans Cell Histiocytosis without Risk Organ Involvement Langerhans cell histiocytosis that occurs during childhood and does not involve the bone marrow, spleen, liver, or lung. Langerhans cell histiocytosis that occurs during childhood, and which does not involve the bone marrow, spleen, liver, or lung. C114483 Childhood Langerhans Cell Histiocytosis C90259 NICHD Terminology C123397 Childhood Spindle Cell Rhabdomyosarcoma Childhood Spindle Cell Rhabdomyosarcoma A spindle cell rhabdomyosarcoma occurring in children. A spindle cell rhabdomyosarcoma occurring in children. C7705 Childhood Rhabdomyosarcoma C6519 Spindle Cell Rhabdomyosarcoma C90259 NICHD Terminology C123398 Childhood Periosteal Osteosarcoma Childhood Periosteal Osteosarcoma A periosteal osteosarcoma occurring in childhood. A periosteal osteosarcoma occurring during childhood. C6585 Childhood Osteosarcoma C90259 NICHD Terminology C123399 First Relapse First Relapse First Recurrence The reemergence of a disorder as diagnosed by clinical and/or laboratory evidence following a single documented period of remission. The reemergence of a disorder as diagnosed by clinical and/or laboratory evidence following a single documented period of remission. C38155 Recurrent Disease C90259 NICHD Terminology C123400 Subsequent Relapse Subsequent Relapse Subsequent Recurrence The reemergence of a disorder as diagnosed by clinical and/or laboratory evidence following two or more documented periods of remission. The reemergence of a disorder as diagnosed by clinical and/or laboratory evidence following two or more documented periods of remission. C38155 Recurrent Disease C90259 NICHD Terminology C123401 Early Relapse of Acute Lymphoblastic Leukemia Early Relapse of Acute Lymphoblastic Leukemia Early Recurrence of ALL || Early Recurrence of Acute Lymphoblastic Leukemia || Early Relapse of ALL Clinical and/or laboratory evidence of reemergence of acute lymphoblastic leukemia less than 18 months (extramedullary) or 36 months (marrow) from diagnosis. Clinical and/or laboratory evidence of reemergence of acute lymphoblastic leukemia less than 18 months (extramedullary) or 36 months (marrow) from diagnosis. C122606 Early Relapse C90259 NICHD Terminology C123402 Late Relapse of Acute Lymphoblastic Leukemia Late Relapse of Acute Lymphoblastic Leukemia Late Recurrence of ALL || Late Recurrence of Acute Lymphoblastic Leukemia || Late Relapse of ALL Clinical and/or laboratory evidence of reemergence of acute lymphoblastic leukemia greater than or equal to 18 months (extramedullary) or 36 months (marrow) from diagnosis. Clinical and/or laboratory evidence of reemergence of acute lymphoblastic leukemia greater than or equal to 18 months (extramedullary) or 36 months (marrow) from diagnosis. C122607 Late Relapse C90259 NICHD Terminology C123405 Multi-Organ Involvement Multi-Organ Involvement A finding indicating the spread of a neoplastic process to multiple organs. A finding indicating the spread of a neoplastic process to multiple organs. C3367 Finding C90259 NICHD Terminology C123406 FLT3-Internal Tandem Duplication High Allelic Ratio FLT3-Internal Tandem Duplication High Allelic Ratio FLT3-Internal Tandem Duplication Amplification A molecular genetic finding in acute myeloid leukemias indicating that FLT3-internal tandem duplication (FLT3-ITD) is the dominant lesion, and which is present in the majority or all of the leukemic cells. A molecular genetic finding in acute myeloid leukemias indicating that FLT3-internal tandem duplication (FLT3-ITD) is the dominant lesion; it is present in the majority or all of the leukemic cells. C36292 Laboratory Test Result C90259 NICHD Terminology C123725 X-Linked Adrenal Hypoplasia Congenita X-Linked Adrenal Hypoplasia Congenita A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism. An X-linked condition present at birth characterized by underdevelopment of the adrenal gland and adrenal insufficiency. C3009 Endocrine System Disorder C90259 NICHD Terminology C123726 SERKAL Syndrome SERKAL Syndrome 46,XX Sex Reversal with Dysgenesis of Kidneys Adrenals and Lungs An autosomal recessive condition characterized by female to male sex reversal and kidney, adrenal, and lung dysgenesis, due to mutation(s) in the WNT4 gene. An autosomal recessive condition characterized by female to male sex reversal and kidney, adrenal, and lung dysgenesis due to mutation(s) in the WNT4 gene. C28193 Syndrome C90259 NICHD Terminology C123727 Familial Glucocorticoid Deficiency Type 1 Familial Glucocorticoid Deficiency Type 1 ACTH Receptor Defect || GCCD1 Familial glucocorticoid deficiency caused by mutation(s) in the MC2R gene encoding the adrenocorticotropin (ACTH) receptor, also known as the melanocortin-2 receptor. A subtype of familial glucocorticoid deficiency caused by mutation(s) in the MC2R gene encoding the adrenocorticotropin (ACTH) receptor, also known as the melanocortin-2 receptor. C120446 Isolated Glucocorticoid Deficiency C90259 NICHD Terminology C123728 Familial Glucocorticoid Deficiency Type 2 Familial Glucocorticoid Deficiency Type 2 GCCD2 || Melanocortin-2 Receptor Accessory Protein Defect Familial glucocorticoid deficiency caused by mutation(s) in the MRAP gene encoding the melanocortin-2 receptor accessory protein. A subtype of familial glucocorticoid deficiency caused by mutation(s) in the MRAP gene encoding the melanocortin-2 receptor accessory protein. C120446 Isolated Glucocorticoid Deficiency C90259 NICHD Terminology C123729 Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect Mini-chromosome Maintenance 4 A congenital condition characterized by growth retardation, a decreased number of NK cells, glucocorticoid deficiency, and increased chromosome breakage, associated with mutation(s) in the MCM4 gene. An autosomal recessive condition characterized by intrauterine and extrauterine growth restriction, decreased numbers of natural killer cells, glucocorticoid deficiency, and increased chromosome breakage; it is associated with mutation(s) in the MCM4 gene. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C123731 Fusion-Positive Alveolar Rhabdomyosarcoma Fusion-Positive Alveolar Rhabdomyosarcoma Fusion Gene Positive Alveolar Rhabdomyosarcoma An alveolar rhabdomyosarcoma characterized by the presence of chromosomal translocation t(1;13)(p36;q14) that results in PAX7-FOXO1 gene fusion; or translocation t(2;13)(q35;q14) that results in PAX3-FOXO1 gene fusion. Approximately 80% of alveolar rhabdomyosarcomas are fusion-positive. A subtype of alveolar rhabdomyosarcoma associated with translocations between the FOXO1 gene on chromosome 13, and either the PAX3 gene on chromosome 2 (t(2;13)(q35;q14)) or the PAX7 gene on chromosome 1 (t(1:13)(p36;q14)). C3359 Rhabdomyosarcoma C90259 NICHD Terminology C123732 Fusion-Negative Alveolar Rhabdomyosarcoma Fusion-Negative Alveolar Rhabdomyosarcoma Fusion Gene Negative Alveolar Rhabdomyosarcoma An alveolar rhabdomyosarcoma characterized by the absence of chromosomal translocation t(1;13)(p36;q14) or t(2;13)(q35;q14) and therefore the absence of PAX7-FOXO1 or PAX3-FOXO1 gene fusion. A subtype of alveolar rhabdomyosarcoma that is not associated with translocations of the FOXO1 gene. Fusion gene-negative alveolar rhabdomyosarcoma is clinically and molecularly indistinguishable from embryonal rhabdomyosarcoma. C3359 Rhabdomyosarcoma C90259 NICHD Terminology C12374 Connective Tissue Connective Tissue The supporting or framework tissue of the animal body, formed of fibrous and ground substance with more or less numerous cells of various kinds; it is derived from the mesenchyme, and this in turn from the mesoderm; the varieties of connective tissue are: areolar or loose; adipose; dense, regular or irregular, white fibrous; elastic; mucous; and lymphoid tissue; cartilage; and bone; the blood and lymph may be regarded as connective tissues the ground substance of which is a liquid. Supporting tissue that surrounds other tissues and organs. Specialized connective tissue includes bone, cartilage, blood, and fat. C32221 Body Part C90259 NICHD Terminology C123834 Childhood Immature Teratoma Childhood Immature Teratoma An immature teratoma occurring in children. An immature teratoma occurring in children. C68626 Childhood Teratoma C90259 NICHD Terminology C123835 Childhood Testicular Immature Teratoma Childhood Testicular Immature Teratoma An immature teratoma that arises from the testis and occurs in children. An immature teratoma that arises from the testis during childhood. C6540 Childhood Testicular Teratoma C68628 Childhood Malignant Testicular Germ Cell Tumor C90259 NICHD Terminology C123836 Childhood Mature Teratoma Childhood Mature Teratoma A mature teratoma occurring in children. A mature teratoma occurring in children. C68626 Childhood Teratoma C90259 NICHD Terminology C123837 Childhood Testicular Mature Teratoma Childhood Testicular Mature Teratoma A mature teratoma that arises from the testis and occurs in children. A mature teratoma that arises from the testis during childhood. C123836 Childhood Mature Teratoma C6540 Childhood Testicular Teratoma C90259 NICHD Terminology C123838 Childhood Germinomatous Germ Cell Tumor Childhood Germinomatous Germ Cell Tumor A germinomatous germ cell tumor occurring in children. A germinomatous germ cell tumor occurring in children. C7928 Childhood Germ Cell Tumor C90259 NICHD Terminology C123840 Childhood Seminoma Childhood Seminoma Childhood Testicular Germinomatous Germ Cell Tumor A seminoma occurring in children. A seminoma occurring in children. C123838 Childhood Germinomatous Germ Cell Tumor C68628 Childhood Malignant Testicular Germ Cell Tumor C90259 NICHD Terminology C123841 Childhood Nongerminomatous Germ Cell Tumor Childhood Non-Germinomatous Germ Cell Tumor A nongerminomatous germ cell tumor occurring in children. A non-germinomatous germ cell tumor occurring in children. C7928 Childhood Germ Cell Tumor C90259 NICHD Terminology C123842 Childhood Ovarian Nongerminomatous Germ Cell Tumor Childhood Ovarian Non-Germinomatous Germ Cell Tumor A nongerminomatous germ cell tumor that arises in the ovary and occurs in children. A non-germinomatous germ cell tumor that arises from the ovary during childhood. C8588 Childhood Ovarian Germ Cell Tumor C123841 Childhood Non-Germinomatous Germ Cell Tumor C90259 NICHD Terminology C123843 Childhood Testicular Non-Seminomatous Germ Cell Tumor Childhood Testicular Non-Seminomatous Germ Cell Tumor Childhood Testicular Non-Germinomatous Germ Cell Tumor A non-seminomatous germ cell tumor that arises in the testis and occurs in children. A non-seminomatous germ cell tumor that arises from the testis during childhood. C6552 Childhood Testicular Germ Cell Tumor C123841 Childhood Non-Germinomatous Germ Cell Tumor C90259 NICHD Terminology C123844 Childhood Choriocarcinoma Childhood Choriocarcinoma A choriocarcinoma occurring in children. A choriocarcinoma occurring in children. C123841 Childhood Non-Germinomatous Germ Cell Tumor C90259 NICHD Terminology C123847 Childhood Embryonal Carcinoma Childhood Embryonal Carcinoma An embryonal carcinoma occurring in children. An embryonal carcinoma occurring in children. C123841 Childhood Non-Germinomatous Germ Cell Tumor C90259 NICHD Terminology C123848 Childhood Mixed Germ Cell Tumor Childhood Mixed Germ Cell Tumor A mixed germ cell tumor occurring in children. A mixed germ cell tumor that occurs in children. C7928 Childhood Germ Cell Tumor C90259 NICHD Terminology C123849 Childhood Ovarian Mixed Germ Cell Tumor Childhood Ovarian Mixed Germ Cell Tumor A mixed germ cell tumor that arises from the ovary and occurs in children. A mixed germ cell tumor that arises from the ovary during childhood. C68629 Childhood Malignant Ovarian Germ Cell Tumor C123848 Childhood Mixed Germ Cell Tumor C90259 NICHD Terminology C123903 Childhood Thyroid Gland Papillary Carcinoma Childhood Thyroid Gland Papillary Carcinoma Childhood Papillary Thyroid Carcinoma A papillary thyroid gland carcinoma occurring in childhood. RET/PTC gene rearrangements are more common in children than adults. A papillary thyroid carcinoma occurring during childhood. The RET/PTC gene rearrangements are more common in children than adults. C118827 Childhood Thyroid Gland Carcinoma C90259 NICHD Terminology C123904 Childhood Thyroid Gland Follicular Carcinoma Childhood Thyroid Gland Follicular Carcinoma Childhood Follicular Thyroid Carcinoma A follicular thyroid gland carcinoma occurring in childhood. A follicular thyroid carcinoma occurring during childhood. C118827 Childhood Thyroid Gland Carcinoma C90259 NICHD Terminology C123905 Childhood Thyroid Gland Medullary Carcinoma Childhood Thyroid Gland Medullary Carcinoma Childhood Medullary Thyroid Carcinoma A medullary thyroid gland carcinoma occurring in childhood. A medullary thyroid carcinoma occurring during childhood. C118827 Childhood Thyroid Gland Carcinoma C90259 NICHD Terminology C123906 Childhood Gastrointestinal Stromal Tumor Childhood Gastrointestinal Stromal Tumor Childhood GIST A gastrointestinal stromal tumor (GIST) occurring in childhood. Pediatric GISTs differ biologically from adult GISTs in that only 11% of pediatric GISTs have activating mutations of KIT and PDGFRA. A gastrointestinal stromal tumor occurring during childhood. Pediatric GIST differ biologically from adult GIST in that only 11% of pediatric GIST have activating mutations of KIT and PDGFRA. C9305 Cancer C90259 NICHD Terminology C123907 Childhood Malignant Kidney Neoplasm Childhood Malignant Kidney Tumor Childhood Malignant Kidney Neoplasm || Childhood Malignant Renal Neoplasm || Childhood Malignant Renal Tumor A malignant neoplasm that affects the kidney and occurs in childhood. A malignant renal tumor occurring during childhood. C9305 Cancer C90259 NICHD Terminology C123932 Childhood Small Intestinal Leiomyosarcoma Childhood Small Intestine Leiomyosarcoma A small intestinal leiomyosarcoma occurring in childhood. A small intestinal leiomyosarcoma occurring during childhood. C8093 Childhood Leiomyosarcoma C90259 NICHD Terminology C123933 Childhood Small Intestinal Carcinoma Childhood Small Intestinal Carcinoma A small intestinal carcinoma occurring in childhood. A small intestinal carcinoma occurring during childhood. C9305 Cancer C90259 NICHD Terminology C124137 Childhood Pineal Parenchymal Tumor of Intermediate Differentiation Childhood Pineal Parenchymal Tumor of Intermediate Differentiation A pineal parenchymal tumor of intermediate differentiation that occurs during childhood. A pineal parenchymal tumor of intermediate differentiation that occurs during childhood. C115196 Childhood Pineal Parenchymal Cell Neoplasm C90259 NICHD Terminology C124224 Pigmentary Change in Skin Pigmentary Change of Skin Abnormal skin pigmentation. Changes in skin pigmentation. C36281 Integumentary System Finding C90259 NICHD Terminology C124269 Childhood Myxopapillary Ependymoma Childhood Myxopapillary Ependymoma A myxopapillary ependymoma that occurs during childhood. A myxopapillary ependymoma that occurs during childhood. C115192 Childhood Ependymal Tumor C90259 NICHD Terminology C124270 Childhood Neuroblastoma Childhood Neuroblastoma A neuroblastoma that occurs during childhood. A neuroblastoma that occurs during childhood. C3270 Neuroblastoma C90259 NICHD Terminology C124271 Childhood Ganglioneuroblastoma Childhood Ganglioneuroblastoma A ganglioneuroblastoma that occurs during childhood. A ganglioneuroblastoma that occurs during childhood. C124270 Childhood Neuroblastoma C90259 NICHD Terminology C124272 Childhood Central Nervous System Ganglioneuroblastoma Childhood Cerebral Ganglioneuroblastoma A cerebral ganglioneuroblastoma that occurs during childhood. A cerebral ganglioneuroblastoma that occurs during childhood. C124271 Childhood Ganglioneuroblastoma C90259 NICHD Terminology C124273 Childhood Ganglioneuroblastoma, Intermixed Childhood Intermixed Ganglioneuroblastoma An intermixed ganglioneuroblastoma that occurs during childhood. An intermixed ganglioneuroblastoma that occurs during childhood. C124271 Childhood Ganglioneuroblastoma C90259 NICHD Terminology C124274 Childhood Ganglioneuroblastoma, Nodular Childhood Nodular Ganglioneuroblastoma A nodular ganglioneuroblastoma that occurs during childhood. A nodular ganglioneuroblastoma that occurs during childhood. C124271 Childhood Ganglioneuroblastoma C90259 NICHD Terminology C124275 Childhood Astrocytoma Childhood Astrocytoma An astrocytoma that occurs during childhood. An astrocytoma that occurs during childhood. C60781 Astrocytoma C9022 Childhood Astrocytic Tumor C90259 NICHD Terminology C124291 Childhood Atypical Choroid Plexus Papilloma Childhood Atypical Choroid Plexus Papilloma An atypical choroid plexus papilloma that occurs during childhood. An atypical choroid plexus papilloma that occurs during childhood. C42080 Childhood Choroid Plexus Neoplasm C90259 NICHD Terminology C124292 Childhood Choroid Plexus Carcinoma Childhood Choroid Plexus Carcinoma A choroid plexus carcinoma that occurs during childhood. A choroid plexus carcinoma that occurs during childhood. C42080 Childhood Choroid Plexus Neoplasm C90259 NICHD Terminology C124293 Childhood Anaplastic Ependymoma Childhood Anaplastic Ependymoma An anaplastic ependymoma that occurs during childhood. An anaplastic ependymoma that occurs during childhood. C115192 Childhood Ependymal Tumor C5448 Malignant Childhood Central Nervous System Neoplasm C90259 NICHD Terminology C124837 Kabuki Syndrome Kabuki Syndrome Kabuki Make-up Syndrome A rare, autosomal dominant or X-linked dominant inherited syndrome caused by mutations in the KMT2D gene (also known as MLL2) or the KDM6A gene. It is characterized by distinctive facial features including arched eyebrows, long eyelashes, long palpebral fissures with the lower lids turned out at the outside edges, a flat nose, and large protruding earlobes, developmental delay and intellectual disability. A syndrome caused in the majority of cases by heterozygous mutation(s) in the KMT2D gene, encoding lysine-specific methyltransferase 2D, an enzyme involved in chromatin regulation; a minority of cases result from mutation(s) in the X-linked KDM6A gene, encoding lysine-specific demethylase 6A, an enzyme involved in regulation of histone methylation. The condition is characterized by distinctive facial features, including arched eyebrows, long eyelashes, long palpebral fissures with the lower lids turned out at the outside edges, a flat nose and large protruding earlobes, dermatoglyphic anomalies, hypotonia, short stature, developmental delay, and intellectual impairment. Some patients also manifest congenital hyperinsulinism, the molecular mechanism of which is unknown. C28193 Syndrome C90259 NICHD Terminology C124853 Mayer-Rokitansky-Kuster-Hauser Syndrome Mayer-Rokitansky-Kuster-Hauser Syndrome MRKH Syndrome || Mullerian Aplasia/Dysgenesis A rare syndrome of unknown cause that occurs in females. It is characterized by underdeveloped or absent vagina and uterus in an otherwise phenotypically normal female with a normal 46,XX karyotype. Other abnormalities include unilateral renal agenesis, skeletal abnormalities, hearing loss, and heart defects. A condition characterized by failure of Müllerian duct development, typically resulting in uterine aplasia and absence or underdevelopment of the vagina, in an otherwise phenotypically normal female individual with a 46,XX karyotype and normal ovarian function. Other organ systems, including the urological, skeletal, cardiac, and otologic may be affected. C28193 Syndrome C90259 NICHD Terminology C125492 First Trimester Antepartum Hemorrhage First Trimester Antepartum Hemorrhage Excessive blood loss within the first trimester but prior to onset of labor. C114371 Antepartum Hemorrhage C90259 NICHD Terminology C125493 Second Trimester Antepartum Hemorrhage Second Trimester Antepartum Hemorrhage Excessive blood loss within the second trimester but prior to onset of labor. C114371 Antepartum Hemorrhage C90259 NICHD Terminology C125494 Third Trimester Antepartum Hemorrhage Third Trimester Antepartum Hemorrhage Excessive blood loss within the third trimester but prior to onset of labor. C114371 Antepartum Hemorrhage C90259 NICHD Terminology C125599 Weaver Syndrome Weaver Syndrome Weaver-Smith Syndrome A rare syndrome caused by mutations in the EZH2 gene, and rarely mutations in the NSD1 gene. It is characterized by advanced bone age, foot deformities, permanently bent joints, macrocephaly, flattened back of the head, a broad forehead, hypertelorism, large, low-set ears, micrognathia, delayed development of motor skills, and mild intellectual disability. An overgrowth syndrome caused by a heterozygous mutation(s) in the EZH2 gene, encoding histone-lysine N-methyltransferase EZH2. This condition is characterized by rapid prenatal and early childhood growth, advanced bone maturation and carpal bone development, craniofacial and skeletal abnormalities, and developmental delay. The distinctive physical and craniofacial characteristics may include macrocephaly, flattened occiput, long philtrum, strabismus, hypertelorism, epicanthal folds, and camptodactyly. C28193 Syndrome C90259 NICHD Terminology C126560 Leri-Weill Dyschondrosteosis Leri-Weill Syndrome Dyschondrosteosis || Leri-Weill Dyschondrosteosis A bone growth disorder inherited in a pseudoautosomal dominant pattern caused by mutations in the SHOX gene. It is characterized by short long bones in the arms and legs, short stature, and abnormalities of the wrist and forearm bones which may cause pain and limit wrist movement. SHOX deficiency caused by heterozygous mutation(s) in the SHOX gene. This condition is characterized by short stature, mesomelia (shortening of radius/ulna and tibia/fibula), and Madelung (dinner fork) deformity of the distal forearm and wrist. C3101 Genetic Disorder C90259 NICHD Terminology C126598 Thyroid Gland Noninvasive Follicular Neoplasm with Papillary-Like Nuclear Features Follicular Thyroid Tumor A non-invasive neoplasm of thyroid follicular cells with a follicular growth pattern and nuclear features of papillary thyroid carcinoma that has an extremely low malignant potential. These tumors were formerly classified as non-invasive encapsulated follicular variant of papillary thyroid carcinoma or well-differentiated tumor of uncertain malignant potential. (WHO 2017) A benign or malignant thyroid tumor arising from follicular cells. C3414 Thyroid Tumor C90259 NICHD Terminology C126809 Glucocorticoid Resistance Glucocorticoid Resistance Chrousos Syndrome || Generalized Glucocorticoid Resistance An autosomal dominant condition due to mutation(s) in the NR3C1 gene, encoding the glucocorticoid receptor, resulting in decreased receptor affinity to glucocorticoids. Compensatory activation of the hypothalamic- pituitary-adrenal (HPA) axis results in increased mineralocorticoid and androgen production; clinical manifestations of glucocorticoid deficiency are rare. An autosomal dominant condition due to mutation(s) in the NR3C1 gene, encoding the glucocorticoid receptor, resulting in decreased receptor affinity to glucocorticoids. Compensatory activation of the hypothalamic- pituitary-adrenal (HPA) axis, resulting in increased mineralocorticoid and androgen production; clinical manifestations of glucocorticoid deficiency are rare. C36285 Endocrine System Finding C90259 NICHD Terminology C126810 Hyponatremic Mineralocorticoid Resistance due to Mineralocorticoid Receptor Defect Hyponatremic Mineralocorticoid Resistance due to Mineralocorticoid Receptor Defect PHA1AD || Pseudohypoaldosteronism Type I Autosomal Dominant An autosomal dominant condition presenting with hyponatremia and hyperkalemia, mimicking low concentrations of aldosterone, associated with loss-of-function mutation(s) in the NR3C2 gene, encoding the mineralocorticoid receptor. An autosomal dominant condition presenting with hyponatremia and hyperkalemia, which mimics low concentrations of aldosterone, and which is associated with loss-of-function mutation(s) in the NR3C2 gene encoding the mineralocorticoid receptor. C36285 Endocrine System Finding C90259 NICHD Terminology C126811 Hyponatremic Mineralocorticoid Resistance due to Urinary Tract Infection Hyponatremic Mineralocorticoid Resistance due to Urinary Tract Infection Mineralocorticoid Resistance due to UTI || Secondary PHA due to UTI A transient condition associated with urinary tract infections in infants presenting with hyponatremia and hyperkalemia, mimicking low concentrations of aldosterone. A transient condition associated with urinary tract infections in infants presenting with hyponatremia and hyperkalemia, mimicking low concentrations of aldosterone. C36285 Endocrine System Finding C90259 NICHD Terminology C126812 Hyperkalemic Mineralocorticoid Resistance Hyperkalemic Mineralocorticoid Resistance Chloride Shunt Syndrome || Familial Hyperkalemic Hypertension || Gordon Hyperkalemia || Mineralocorticoid Resistant Hyperkalemia || PHA Type 2 || Pseudohypoaldosteronism, Type II || Spitzer-Weinstein Syndrome A genetically heterogynous condition characterized by hyperkalemia, hyperchloremic acidosis, low or suppressed renin activity, and normal to high concentrations of aldosterone. Mutations in genes (for example WNK1 or WNK4), regulating Na-Cl cotransporters (NCC), Na-K-Cl cotransporters (NKCC2), or the renal outer medullary potassium (ROMK) channel have been identified as causative in this condition. The primary abnormality is thought to be a specific defect of the renal secretory mechanism for potassium, which limits the kaliuretic response to, but not the sodium and chloride reabsorptive effect of, mineralocorticoid. A genetically heterogenous condition characterized by hyperkalemia, hyperchloremic acidosis, low or suppressed renin activity, and normal to high concentrations of aldosterone. Mutations in genes (for example WNK1 or WNK4) regulating Na-Cl cotransporters (NCC), Na-K-Cl cotransporters (NKCC2), or the renal outer medullary potassium (ROMK) channel have been identified as causative in this condition. The primary abnormality is thought to be a specific defect of the renal secretory mechanism for potassium, which limits the kaliuretic response to, but not the sodium and chloride reabsorptive effect of, mineralocorticoid(s). C36285 Endocrine System Finding C90259 NICHD Terminology C126813 Aldosterone Synthase Deficiency Aldosterone Synthase Deficiency Corticosterone Methyl Oxidase Deficiency An autosomal recessive condition due to mutation(s) in the CYP11B2 gene that results in decreased activity of mitochondrial cytochrome P450 11B2 with reduced aldosterone synthesis and salt wasting. An autosomal recessive condition due to mutation(s) in the CYP11B2 gene that results in decreased activity of mitochondrial cytochrome P450 11B2 with reduced aldosterone synthesis and salt wasting. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C126814 Aldosterone Synthase Deficiency Type 1 Aldosterone Synthase Deficiency Type 1 CMO Type 1 || Corticosterone Methyl Oxidase Deficiency Type 1 Aldosterone synthase deficiency characterized by decreased conversion of corticosterone to 18-hydroxycorticosterone. Aldosterone synthase deficiency characterized by decreased conversion of corticosterone to 18-hydroxycorticosterone. C126813 Aldosterone Synthase Deficiency C90259 NICHD Terminology C126815 Aldosterone Synthase Deficiency Type 2 Aldosterone Synthase Deficiency Type 2 CMO Type 2 || Corticosterone Methyl Oxidase Deficiency Type 2 Aldosterone synthase deficiency characterized by decreased conversion of 18-hydroxycorticosterone to aldosterone. Aldosterone synthase deficiency characterized by decreased conversion of 18-hydroxycorticosterone to aldosterone. C126813 Aldosterone Synthase Deficiency C90259 NICHD Terminology C126816 Hyporeninenmic Hypoaldosteronism Hyporeninemic Hypoaldosteronism Hypoaldosteronism characterized by hyperkalemia and inappropriately low renin activity. This condition may be caused by a primary renal disorder, drugs or autoimmune processes. Hypoaldosteronism characterized by hyperkalemia and inappropriately low renin activity. This condition may be caused by a primary renal disorder, drugs, or autoimmune processes. C36285 Endocrine System Finding C90259 NICHD Terminology C126817 Hyperreninemic Hypoaldosteronism Hyperreninemic Hypoaldosteronism Hypoaldosteronism characterized by impaired secretion of aldosterone, despite increased renin activity. This condition may be caused by chronic or critical illness, aldosterone synthase deficiency or other genetic conditions. Hypoaldosteronism characterized by impaired secretion of aldosterone, despite increased renin activity. This condition may be caused by chronic or critical illness, aldosterone synthase deficiency, or other genetic conditions. C113206 Aldosterone Deficiency C90259 NICHD Terminology C126876 Langer Mesomelic Dysplasia Langer Type Mesomelic Dysplasia Langer Syndrome An autosomal recessive condition caused by mutation (s) in the SHOX gene, encoding short stature homeobox protein. The condition is characterized by shortening of the bones of the middle segments of the limbs. SHOX deficiency due to homozygous mutation(s) in the SHOX gene. This condition is characterized by severe hypoplasia of the radius/ulna and tibia/fibula resulting in extreme short stature. C3101 Genetic Disorder C90259 NICHD Terminology C127157 Corticotropin-Releasing Hormone Deficiency Corticotropin-Releasing Hormone Deficiency CRH Deficiency Diminished production of adrenocortical hormones due to presumed insufficient secretion of corticotropin-releasing hormone from the hypothalamus. Diminished production of adrenocortical hormones due to presumed insufficient secretion of corticotropin-releasing hormone from the hypothalamus. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology Tertiary Adrenal Insufficiency C127158 Primary Adrenal Glucocorticoid Excess Primary Adrenal Glucocorticoid Excess Supranormal glucocorticoid concentrations resulting from a condition originating within the adrenal gland. Supranormal glucocorticoid concentrations resulting from a condition originating within the adrenal gland. C36285 Endocrine System Finding C90259 NICHD Terminology C127159 Iatrogenic Cushing Syndrome Iatrogenic Cushing Syndrome Cushing syndrome as a result of increased glucocorticoids due to medical therapy. Cushing syndrome as a result of increased glucocorticoids due to medical therapy. C28193 Syndrome C90259 NICHD Terminology C127160 Familial Hyperaldosteronism Familial Hyperaldosteronism A heritable form of hyperaldosteronism. A heritable form of hyperaldosteronism. C113213 Hyperaldosteronism C90259 NICHD Terminology C127161 Familial Hyperaldosteronism Type 1 Familial Hyperaldosteronism Type 1 CYP11B1/CYP11B2 Chimerism || Glucocorticoid Remediable Aldosteronism || Glucocorticoid Suppressible Hypertension Familial hyperaldosteronism caused by a chimeric gene containing regions of CYP11B1 and CYP11B2. This condition is responsive to exogenous glucocorticoids. Familial hyperaldosteronism caused by a chimeric gene containing regions of CYP11B1 and CYP11B2. This condition is responsive to exogenous glucocorticoids. C127160 Familial Hyperaldosteronism C90259 NICHD Terminology C127162 Familial Hyperaldosteronism Type 2 Familial Hyperaldosteronism Type 2 Familial hyperaldosteronism unresponsive to glucocorticoid therapy. The molecular basis for this condition has not been fully elucidated. Familial hyperaldosteronism unresponsive to glucocorticoid therapy. The molecular basis for this condition has not been fully elucidated. C127160 Familial Hyperaldosteronism C90259 NICHD Terminology C127163 Familial Hyperaldosteronism Type 3 Familial Hyperaldosteronism Type 3 Familial hyperaldosteronism caused by a mutation in the KCNJ5 gene, which encodes the inwardly rectifying potassium channel. This condition, characterized by hypokalemia and severe hypertension, presents during early childhood, and is unresponsive to glucocorticoid therapy. Familial hyperaldosteronism caused by a mutation in the KCNJ5 gene, which encodes the inwardly rectifying potassium channel. This condition, characterized by hypokalemia and severe hypertension, presents during early childhood, and is unresponsive to glucocorticoid therapy. C127160 Familial Hyperaldosteronism C90259 NICHD Terminology C127164 Multinodular Adrenal Hyperplasia Multinodular Adrenal Hyperplasia A subtype of adrenal hyperplasia, based on histopathologic features, in which there are multiple nodules. A subtype of adrenal hyperplasia, based on histopathologic features, in which there are multiple nodules. C34360 Congenital Adrenal Hyperplasia C90259 NICHD Terminology C127165 Micronodular Adrenal Hyperplasia Micronodular Adrenal Hyperplasia Micronodular Adrenal Disease Adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually less than one centimeter in diameter. Adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually less than one centimeter in diameter. C34360 Congenital Adrenal Hyperplasia C90259 NICHD Terminology C127166 Macronodular Adrenal Hyperplasia Macronodular Adrenal Hyperplasia Macronodular Adrenal Disease Adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually more than one centimeter in diameter. Adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually more than one centimeter in diameter. C34360 Congenital Adrenal Hyperplasia C90259 NICHD Terminology C127167 Ovotesticular Differences of Sex Development Ovotesticular Differences of Sex Development Ovotesticular DSD || Ovotesticular Disorders of Sex Development Difference of sex development characterized by the presence of ovarian and testicular tissue in the same individual. The clinical manifestations of the condition, which can be associated with 46,XX, 46,XY or 46,XX/46,XY mosaic karyotype, are variable. Difference of sex development characterized by the presence of ovarian and testicular tissue in the same individual. The clinical manifestations of the condition, which can be associated with 46,XX, 46,XY or 46,XX/46,XY mosaic karyotype, are variable. C103186 Differences of Sex Development C90259 NICHD Terminology True Hermaphroditism C127168 Sex Chromosome Differences of Sex Development Sex Chromosome Differences of Sex Development A condition affecting gonadal and/or internal and/or external reproductive/genital development in which there is an atypical number of sex chromosomes (i.e. fewer or greater than the typical 2 X chromosomes or 1 X and 1 Y chromosome). Differences of sex development in which there is an atypical number of sex chromosomes. C103186 Differences of Sex Development C90259 NICHD Terminology C127169 46,XX Differences of Sex Development 46,XX Differences of Sex Development 46,XX DSD || 46,XX Disorders of Sex Development Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures. Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures. C103186 Differences of Sex Development C90259 NICHD Terminology C127170 46,XX Testicular Differences of Sex Development 46,XX Testicular Differences of Sex Development 46,XX Testicular DSD || 46,XX Testicular Disorders of Sex Development Presence of testes in an individual with a 46,XX karyotype, typically associated with translocation of the SRY gene, encoding the transcription factor sex-determining region Y protein, from the paternal Y chromosome to the paternal X chromosome during gametogenesis (SRY-positive). Approximately 15-20% of individuals with 46,XX testicular DSD are SRY-negative. These individuals may have other genetic variations affecting testis determination, such as duplication of the SOX9 gene, which encodes the transcription factor SOX-9. Presence of testes in an individual with a 46,XX karyotype, typically associated with translocation of the SRY gene, encoding the transcription factor sex-determining region Y protein, from the paternal Y chromosome to the paternal X chromosome during gametogenesis (SRY-positive). Approximately 15-20% of individuals with 46,XX testicular DSD are SRY-negative. These individuals may have other genetic variations affecting testis determination, such as duplication of the SOX9 gene, which encodes the transcription factor SOX-9. C103186 Differences of Sex Development C90259 NICHD Terminology C127171 46,XY Differences of Sex Development 46,XY Differences of Sex Development 46,XY DSD || 46,XY Disorders of Sex Development Differences of sex development in individuals with 46,XY karyotype. Differences of sex development in individuals with 46,XY karyotype. C103186 Differences of Sex Development C90259 NICHD Terminology C127172 46,XX Ovotesticular Difference of Sex Development 46,XX Ovotesticular Difference of Sex Development The presence of ovarian and testicular tissue in the an individual with 46,XX karyotype. The anatomical expression of this condition is variable. Ovotesticular differences of sex development in individuals with 46,XX karyotype. C103186 Differences of Sex Development C90259 NICHD Terminology 46,XX True Hermaphroditism C127173 46,XY Ovotesticular Differences of Sex Development 46,XY Ovotesticular Differences of Sex Development The presence of ovarian and testicular tissue in the an individual with 46,XY karyotype. The anatomical expression of this condition is variable. Ovotesticular differences of sex development in individuals with 46,XY karyotype. C103186 Differences of Sex Development C90259 NICHD Terminology 46,XY True Hermaphroditism C127174 46,XX/46,XY Ovotesticular Differences of Sex Development 46,XX/46,XY Ovotesticular Differences of Sex Development 46,XX/46,XY Disorders of Sex Development Ovotesticular differences of sex development in individuals with 46,XY/46,XX mosaic karyotype. Ovotesticular differences of sex development in individuals with 46,XY/46,XX mosaic karyotype. C103186 Differences of Sex Development C90259 NICHD Terminology C127194 Somatotroph/Lactotroph Adenoma Growth Hormone and Prolactin-Producing Adenoma A pituitary gland adenoma composed of acidophilic cells that produce both growth hormone and prolactin. It is characterized by the detection of growth hormone and prolactin within the same acidophilic cell, or an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. A non-malignant pituitary tumor that produces growth hormone and prolactin. C3329 Pituitary Gland Adenoma C90259 NICHD Terminology C128108 Idiopathic Membranous Glomerulopathy Idiopathic Membranous Glomerulopathy Chronic degenerative changes in the kidney characterized by thickened and inflamed glomeruli and proteinurea, the cause of which is unknown. Membranous glomerulopathy, the cause of which is not known. C120887 Glomerulopathy C90259 NICHD Terminology C128110 Nephrotic Syndrome - Infrequently Relapsing Nephrotic Syndrome - Infrequently Relapsing Nephrotic syndrome in which there is a relapse occurring less than twice in the first six months, or less than four times in a year. Nephrotic syndrome in which there is a relapse occurring less than twice in the first six months, or less than four times in a year. C34845 Nephrotic Syndrome C90259 NICHD Terminology C128143 Idiopathic Crescentic Glomerulonephritis Idiopathic Crescentic Glomerulonephritis Crescentic glomerulonephritis, the cause of which is unknown. Crescentic glomerulonephritis, the cause of which is not known. C35444 Crescentic Glomerulonephritis C90259 NICHD Terminology C128144 Membranous Nephropathy - Secondary Membranous Nephropathy - Secondary Secondary Membranous Glomerulopathy Membranous nephropathy due to another medical condition. Membranous nephropathy due to another medical condition. C34645 Membranous Nephropathy C90259 NICHD Terminology C128145 Pierson Syndrome Pierson Syndrome An autosomal recessive disorder caused by mutation(s) in the LAMB2 gene, encoding laminin subunit beta-2. It is characterized by congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities. An autosomal recessive disorder caused by mutation(s) in the LAMB2 gene, encoding laminin subunit beta-2. It is characterized by congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities. C35337 Congenital Nephrotic Syndrome C90259 NICHD Terminology C128146 Renal Infarct Renal Infarct Kidney Infarct Ischemic necrosis of the kidney caused by interruption of the blood supply to the area. Ischemic necrosis of the kidney caused by interruption of the blood supply to the area. C25738 Infarct C90259 NICHD Terminology C128147 Acquired Solitary Kidney Acquired Solitary Kidney A finding of one kidney after the loss of the second, whether due to injury, disease or surgery. A finding of one kidney after the loss of the second, whether due to injury, disease or surgery. C36287 Congenital or Acquired Anatomic Abnormality C90259 NICHD Terminology C128168 Contact Transmission Contact Transmission The transmission of an infectious agent via touch. The transmission of an infectious agent via touch. C128376 Mode of Transmission C90259 NICHD Terminology C128169 Direct Transmission Direct Transmission Direct Contact Transmission The transmission of an infectious agent from a source (e.g., person, animal, or surface) to a host without an intermediary. The transmission of an infectious agent from a source (e.g., person, animal, or surface) to a host without an intermediary. C128376 Mode of Transmission C90259 NICHD Terminology C128170 Indirect Transmission Indirect Transmission Indirect Contact Transmission The transmission of an infectious agent from a source to a host through an intermediary such as inanimate objects (vehicles) or living organisms (vectors). The transmission of an infectious agent from a source to a host through an intermediary such as inanimate objects (vehicles) or living organisms (vectors). C128376 Mode of Transmission C90259 NICHD Terminology C128320 Infection Infection The invasion of an organism's body tissues by disease-causing agents and their multiplication, as well as the reaction by the host to these organisms and/or toxins that the organisms produce. The invasion of an organism's body tissues by disease-causing agents and their multiplication, as well as the reaction by the host to these organisms and/or toxins that the organisms produce. C3367 Finding C90259 NICHD Terminology C128322 Peritonsillar Abscess Peritonsillar Abscess An abscess that develops in the space surrounding one or both palatine tonsils. An abscess that develops in the space surrounding one or both palatine tonsils. C26686 Abscess C90259 NICHD Terminology Quinsy C128323 Parapharyngeal Abscess Parapharyngeal Abscess Lateral Pharyngeal Abscess An abscess that develops in the soft tissues of the lateral pharyngeal space. An abscess that develops in the soft tissues of the lateral pharyngeal space. C26686 Abscess C90259 NICHD Terminology C128324 Retropharyngeal Abscess Retropharyngeal Abscess An abscess that develops in the soft tissues behind the posterior pharyngeal wall. An abscess that develops in the soft tissues behind the posterior pharyngeal wall. C26686 Abscess C90259 NICHD Terminology C128325 Prevertebral Abscess Prevertebral Abscess An abscess that develops in the tissues within the prevertebral fascia. An abscess that develops in the tissues within the prevertebral fascia. C26686 Abscess C90259 NICHD Terminology C128326 Intra-abdominal Abscess Intra-abdominal Abscess An abscess within the abdomen. An abscess within the abdomen. C26686 Abscess C90259 NICHD Terminology C128327 Subdiaphragmatic Abscess Subdiaphragmatic Abscess Subphrenic Abscess An abscess that is located in the anatomical space between the diaphragm and the liver and/or spleen. An abscess that is located in the anatomical space between the diaphragm and the liver and/or spleen. C26686 Abscess C90259 NICHD Terminology C128328 Mesenteric Abscess Mesenteric Abscess An abscess that is located in any part of the tissue composing the mesentery, and that generally arises from an infection in an adjacent area of the intestine. An abscess that is located in any part of the tissue composing the mesentery, and that generally arises from an infection in an adjacent area of the intestine. C26686 Abscess C90259 NICHD Terminology C128329 Perihepatic Abscess Perihepatic Abscess An abscess that is located in the anatomical space surrounding the liver, but which is outside of the liver capsule itself. An abscess that is located in the anatomical space surrounding the liver, but which is outside of the liver capsule itself. C26686 Abscess C90259 NICHD Terminology C128330 Retroperitoneal Abscess Retroperitoneal Abscess An abscess that is located in the abdominal cavity posterior to the peritoneum. An abscess that is located in the abdominal cavity posterior to the peritoneum. C26686 Abscess C90259 NICHD Terminology C128331 Pelvic Abscess Pelvic Abscess An abscess that is located in the pelvic cavity. An abscess that is located in the pelvic cavity. C26686 Abscess C90259 NICHD Terminology C128332 Reactive Arthritis Reactive Arthritis A form of inflammatory arthritis that results as a reaction to a bacterial infection outside the joint. A form of inflammatory arthritis that results as a reaction to a bacterial infection outside the joint. C2883 Arthritis C90259 NICHD Terminology C128333 Migratory Arthritis Migratory Arthritis A form of reactive arthritis in which the inflammation moves between joints. A form of reactive arthritis in which the inflammation moves between joints. C2883 Arthritis C90259 NICHD Terminology C128334 Legionellosis Legionellosis Any disease caused by Legionella bacteria. Any disease caused by Legionella bacteria. C2890 Bacterial Infection C90259 NICHD Terminology C128335 Pontiac Fever Pontiac Fever A self-limited, febrile illness without pneumonia that occurs in epidemics, and that is caused by Legionella species. A self-limited, febrile illness without pneumonia that occurs in epidemics, and that is caused by Legionella species. C2890 Bacterial Infection C90259 NICHD Terminology C128336 Melioidosis Melioidosis Whitmore Disease An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration. An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration. C2890 Bacterial Infection C90259 NICHD Terminology C128337 Yersiniosis Yersiniosis An infection that is caused by Yersinia enterocolitica or Yersinia pseudotuberculosis, and that is usually acquired by consumption of contaminated meat, water, or unpasteurized milk. It can also be transmitted vertically, pre- or perinatally, from mother to infant. Manifestation of symptoms depends on the infecting species and mode of acquisition, and can range from gastrointestinal syndromes to septicemia. An infection that is caused by Yersinia enterocolitica or Yersinia pseudotuberculosis, and that is usually acquired by consumption of contaminated meat, water, or unpasteurized milk. It can also be transmitted vertically, pre- or perinatally, from mother to infant. Manifestation of symptoms depends on the infecting species and mode of acquisition, and can range from gastrointestinal syndromes to septicemia. C35803 Zoonotic Infection C2890 Bacterial Infection C90259 NICHD Terminology C128338 Historical term that references a form of pneumonia caused by Mycoplasma pneumoniae, Chlamydophila pneumoniae, or Legionella species. Historical term that references a form of pneumonia caused by Mycoplasma pneumoniae, Chlamydophila pneumoniae, or Legionella species. C3333 Pneumonia C90259 NICHD Terminology Atypical Pneumonia Walking Pneumonia C128339 Legionella Pneumonia Legionella Pneumonia Legionnaires' Disease A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations. A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations. C3333 Pneumonia C90259 NICHD Terminology C128340 Bacillary Peliosis Bacillary Peliosis An infection that is caused by Bartonella henselae, which occurs primarily in immunocompromised persons; it is characterized by blood-filled cysts in the liver and spleen. An infection that is caused by Bartonella henselae, which occurs primarily in immunocompromised persons; it is characterized by blood-filled cysts in the liver and spleen. C35803 Zoonotic Infection C2890 Bacterial Infection C90259 NICHD Terminology C128341 Foodborne Botulism Foodborne Botulism Botulism that is caused by consuming food or beverage that contains the botulinum toxin. Botulism that is caused by consuming food or beverage that contains the botulinum toxin. C84599 Botulism C90259 NICHD Terminology C128342 Wound Botulism Wound Botulism Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum. Botulism that is caused by toxin that is produced in a wound contaminated with Clostridium botulinum. C84599 Botulism C90259 NICHD Terminology C128343 Infant Botulism Infant Botulism Botulism that is caused by contact with spores of Clostridial bacteria, which subsequently grow in the intestine and release toxin. Botulism that is caused by contact with spores of Clostridial bacteria, which subsequently grow in the intestine and release toxin. C84599 Botulism C90259 NICHD Terminology C128344 Adult Intestinal Botulism Adult Intestinal Botulism Adult Intestinal Toxemia Botulism A rare form of botulism that occurs among adults by the same mechanism as infant botulism. A rare form of botulism that occurs among adults by the same mechanism as infant botulism. C84599 Botulism C90259 NICHD Terminology C128345 Iatrogenic Botulism Iatrogenic Botulism Accidental Botulism Botulism that occurs following injection of botulinum toxin. Botulism that occurs following injection of botulinum toxin. C84599 Botulism C90259 NICHD Terminology C128346 Prion Disease Prion Disease A transmissible, infectious disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal. A transmissible, infectious disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal. C26726 Infectious Disorder C90259 NICHD Terminology C128347 Antibiotic-Associated Colitis Antibiotic-Associated Colitis Inflammation of the colon that is caused by an alteration in intestinal flora by antibiotic use. Inflammation of the colon that is caused by an alteration in intestinal flora by antibiotic use. C26723 Colitis C90259 NICHD Terminology C128348 Fecal-Oral Transmission Fecal-Oral Transmission The transmission of an infectious agent to a host's oral cavity via the fecal particles of another living organism. The transmission of an infectious agent to a host's oral cavity via the fecal particles of another living organism. C128376 Mode of Transmission C90259 NICHD Terminology C128349 Cercarial Dermatitis Cercarial Dermatitis Duck Itch || Lake Itch || Swimmer's Itch A pruritic rash that occurs as consequence of cercariae penetration of the skin after aquatic exposure to animal (usually avian) schistosomes, often in countries non-endemic to human schistosomiasis. The condition is non-invasive and responsive to symptomatic treatment. A pruritic rash that occurs as consequence of cercariae penetration of the skin after aquatic exposure to animal (usually avian) schistosomes, often in countries non-endemic to human schistosomiasis. The condition is non-invasive and responsive to symptomatic treatment. C3371 Skin Disorder C90259 NICHD Terminology C128350 Antibiotic-Associated Diarrhea Antibiotic-Associated Diarrhea Diarrhea that is associated with current or recent antibiotic use. Diarrhea that is associated with current or recent antibiotic use. C2987 Diarrhea C90259 NICHD Terminology C128351 Foodborne Illness Foodborne Illness Food Poisoning Any disorder that results from the consumption of food contaminated with an infectious agent or toxin. Any disorder that results from the consumption of food contaminated with an infectious agent or toxin. C26726 Infectious Disorder C90259 NICHD Terminology C128352 Droplet Transmission Droplet Transmission Droplet Spread The direct transmission of an infectious agent to a host by a spray of a relatively large (greater than five microns), short range respiratory aerosol. The direct transmission of an infectious agent to a host by a spray of a relatively large (greater than five microns), short range respiratory aerosol. C128376 Mode of Transmission C90259 NICHD Terminology C128353 Airborne Transmission Airborne Transmission The direct transmission of an infectious agent to a host via droplet nuclei (less than or equal to five microns) or dust suspended in the air. The direct transmission of an infectious agent to a host via droplet nuclei (less than or equal to five microns) or dust suspended in the air. C128376 Mode of Transmission C90259 NICHD Terminology C128354 Arthropod Vector Arthropod Vector An animal within the phylum Arthropoda that transmits an infectious agent to a vertebrate animal. An animal within the phylum Arthropoda that transmits an infectious agent to a vertebrate animal. C14198 Vector C90259 NICHD Terminology C128355 Native Valve Endocarditis Native Valve Endocarditis Endocarditis affecting a native valve of the heart. Endocarditis affecting a native valve of the heart. C34582 Endocarditis C90259 NICHD Terminology C128356 Prosthetic Valve Endocarditis Prosthetic Valve Endocarditis Endocarditis occurring on parts of a valve prosthesis or a reconstructed heart valve; it can be classified into early and late prosthetic valve endocarditis. Endocarditis occurring on parts of a valve prosthesis or a reconstructed heart valve; it can be classified into early and late prosthetic valve endocarditis. C34582 Endocarditis C90259 NICHD Terminology C128357 Early Prosthetic Valve Endocarditis Early Prosthetic Valve Endocarditis Prosthetic valve endocarditis that occurs days to weeks after surgery. Prosthetic valve endocarditis that occurs days to weeks after surgery. C128356 Prosthetic Valve Endocarditis C90259 NICHD Terminology C128358 Late Prosthetic Valve Endocarditis Late Prosthetic Valve Endocarditis Prosthetic valve endocarditis that occurs several months to years following valve replacement. Prosthetic valve endocarditis that occurs several months to years following valve replacement. C128356 Prosthetic Valve Endocarditis C90259 NICHD Terminology C128359 Bacterial Endocarditis Bacterial Endocarditis Endocarditis that is caused by an infection with a bacterial agent. Endocarditis that is caused by an infection with a bacterial agent. C34582 Endocarditis C90259 NICHD Terminology C128360 Lymphatic Filariasis Lymphatic Filariasis Elephantiasis A clinical disorder that is caused by obstruction of the lymphatic system years after filarial infection. It is characterized by painful and profound lymphedema, resulting in significant swelling (elephantiasis) of extremities and genitals. A clinical disorder that is caused by obstruction of the lymphatic system years after filarial infection. It is characterized by painful and profound lymphedema, resulting in significant swelling (elephantiasis) of extremities and genitals. C27864 Parasitic Infection C90259 NICHD Terminology C128361 Colonization Colonization The presence of microorganisms (not contamination) on a body surface, including the skin and mucosal surfaces (e.g., respiratory, gastrointestinal, and urogenital tracts). Colonization implies the lack of signs or symptoms of infection but often precedes infection. The presence of microorganisms (not contamination) on a body surface, including the skin and mucosal surfaces (e.g., respiratory, gastrointestinal, and urogenital tracts). Colonization implies the lack of signs or symptoms of infection but often precedes infection. C3367 Finding C90259 NICHD Terminology C128362 Dimorphic Fungus Dimorphic Fungus A fungus that grows as either a yeast or a mold. A fungus that grows as either a yeast or a mold. C14209 Fungus C90259 NICHD Terminology C128363 Interferon-Gamma Release Assay Interferon-Gamma Release Assay IGRA A blood test that exposes a person's lymphocytes ex vivo to two or three Mycobacterium tuberculosis-specific antigens; a positive result suggests that the person has tuberculosis infection. A blood test that exposes a person's lymphocytes ex vivo to two or three Mycobacterium tuberculosis-specific antigens; a positive result suggests that the person has tuberculosis infection. C25294 Laboratory Procedure C90259 NICHD Terminology C128364 Vehicle Transmission Vehicle Transmission The indirect transmission of an infectious agent to a host via inanimate objects such as food, water, biologic products, or fomites. The indirect transmission of an infectious agent to a host via inanimate objects such as food, water, biologic products, or fomites. C128376 Mode of Transmission C90259 NICHD Terminology C128365 Vector Transmission Vector Transmission The indirect transmission of an infectious agent to a host via another living organism, either through purely mechanical means (e.g., insect bite) or by that organism supporting the growth or changes in the agent that make it infectious to the host. The indirect transmission of an infectious agent to a host via another living organism, either through purely mechanical means (e.g., insect bite) or by that organism supporting the growth or changes in the agent that make it infectious to the host. C128376 Mode of Transmission C90259 NICHD Terminology C128367 Endogenous Infection Endogenous Infection Auto-Infection An infection caused by an infectious agent that is present on or in the host prior to the start of the infection. An infection caused by an infectious agent that is present on or in the host prior to the start of the infection. C128320 Infection C90259 NICHD Terminology C128368 Mastoiditis Mastoiditis Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process. Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process. C118420 Otolaryngologic Disorder C90259 NICHD Terminology C128369 Labyrinthitis Labyrinthitis Inflammation of the inner ear. Inflammation of the inner ear. C118420 Otolaryngologic Disorder C90259 NICHD Terminology C128370 Fungal Keratitis Fungal Keratitis Keratitis caused by fungi. Keratitis caused by fungi. C3245 Fungal Infection C26805 Keratitis C90259 NICHD Terminology C128371 Late Latent Syphilis Late Latent Syphilis Latent syphilis when infection was acquired more than twelve months previously. Latent syphilis when infection was acquired more than twelve months previously. C35056 Latent Syphilis C90259 NICHD Terminology C128372 Severe Malaria Severe Malaria Complicated Malaria Acute malaria with signs of organ dysfunction, severe anemia (hemoglobin less than 5 g/dL or hematocrit less than 15%) and/or hyperparasitemia (greater than 5% of red blood cells infected). Acute malaria with signs of organ dysfunction, severe anemia (hemoglobin less than 5 g/dL or hematocrit less than 15%) and/or hyperparasitemia (greater than 5% of red blood cells infected). C34797 Malaria C90259 NICHD Terminology C128373 Cerebral Malaria Cerebral Malaria A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures. A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures. C34797 Malaria C90259 NICHD Terminology C128374 Eosinophilic Meningitis Eosinophilic Meningitis Meningitis in which eosinophils predominate in the cerebrospinal fluid. Meningitis in which eosinophils predominate in the cerebrospinal fluid. C26828 Meningitis C90259 NICHD Terminology C128375 Infectious Meningoencephalitis Infectious Meningoencephalitis Inflammation of the meninges and brain caused by an infectious agent. Inflammation of the meninges and brain caused by an infectious agent. C34813 Meningoencephalitis C26726 Infectious Disorder C90259 NICHD Terminology C128376 Mode of Transmission Mode of Transmission The process by which an infection is transmitted to a person. The process by which an infection is transmitted to a person. C20189 Property or Attribute C90259 NICHD Terminology C128377 Tuberculosis Infection Tuberculosis Infection LTBI || Latent Tuberculosis Infection The asymptomatic presence of Mycobacterium tuberculosis in the body, which is determined by a positive result to a tuberculin skin test or interferon-gamma release assay. The asymptomatic presence of Mycobacterium tuberculosis in the body, which is determined by a positive result to a tuberculin skin test or interferon-gamma release assay. C2890 Bacterial Infection C90259 NICHD Terminology C128378 Acute Transverse Myelitis Acute Transverse Myelitis A neurologic disorder that is caused by inflammation across both sides of one level, or segment, of the spinal cord. (from NINDS) A neurologic disorder that is caused by inflammation across both sides of one level, or segment, of the spinal cord. (from NINDS) C26832 Myelitis C90259 NICHD Terminology C128379 Acute Flaccid Myelitis Acute Flaccid Myelitis An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause. An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause. C26832 Myelitis C90259 NICHD Terminology C128380 Bacterial Myocarditis Bacterial Myocarditis Myocarditis that is caused by an infection with a bacterial agent. Myocarditis that is caused by an infection with a bacterial agent. C34831 Myocarditis C2890 Bacterial Infection C90259 NICHD Terminology C128381 Viral Myocarditis Viral Myocarditis Myocarditis that is caused by an infection with a viral agent. Myocarditis that is caused by an infection with a viral agent. C34831 Myocarditis C3439 Viral Infection C90259 NICHD Terminology C128382 Pyomyositis Pyomyositis Tropical Pyomyositis A suppurative infection of muscle. A suppurative infection of muscle. C110937 Musculoskeletal Finding C26726 Infectious Disorder C90259 NICHD Terminology C128384 Collapsed Lung Collapsed Lung Atelectasis of an entire lung. Atelectasis of an entire lung. C3198 Lung Disorder C90259 NICHD Terminology C128385 Uvulitis Uvulitis Inflammation of the uvula. Inflammation of the uvula. C118420 Otolaryngologic Disorder C90259 NICHD Terminology C128386 Chronic Suppurative Otitis Media Chronic Suppurative Otitis Media CSOM Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane. Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane. C34885 Otitis Media C90259 NICHD Terminology C128387 Fasciolosis Fasciolosis Fascioliasis A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). Adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction. A parasitic infection that is caused by liver flukes, usually Fasciola hepatica, of sheep, goats, and cattle. Humans become infected by eating uncooked, infested aquatic vegetation (classically watercress). Adult flukes inhabit the bile ducts, gallbladder, and occasionally ectopic sites. Symptoms arise secondary to inflammatory response or obstruction. C27864 Parasitic Infection C35803 Zoonotic Infection C90259 NICHD Terminology C128388 Fasciolopsiasis Fasciolopsiasis A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response. A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response. C27864 Parasitic Infection C35803 Zoonotic Infection C90259 NICHD Terminology C128389 Heterophyiasis Heterophyiasis An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection. An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection. C27864 Parasitic Infection C35803 Zoonotic Infection C90259 NICHD Terminology C128390 Metagonimiasis Metagonimiasis An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection. An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection. C27864 Parasitic Infection C35803 Zoonotic Infection C90259 NICHD Terminology C128391 Diphyllobothriasis Diphyllobothriasis An infection that is caused by the tapeworm Diphyllobothrium latum and related species; it is transmitted via consumption of raw or undercooked fish, and symptoms include abdominal discomfort, diarrhea, vomiting, fatigue, weight loss, and vitamin B12 deficiency. An infection that is caused by the tapeworm Diphyllobothrium latum and related species; it is transmitted via consumption of raw or undercooked fish, and symptoms include abdominal discomfort, diarrhea, vomiting, fatigue, weight loss, and vitamin B12 deficiency. C27864 Parasitic Infection C35803 Zoonotic Infection C90259 NICHD Terminology C128392 Ascariasis Ascariasis An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur. An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur. C27864 Parasitic Infection C35803 Zoonotic Infection C90259 NICHD Terminology C128393 Anisakiasis Anisakiasis An infection that is caused by nematodes of the genus Anisakis, which is most commonly transmitted via ingestion of infective larvae from consumption of raw or undercooked fish or squid; it is characterized by invasion of the stomach wall or intestines, resulting in the death of the worm, and triggering an inflammatory response that surrounds the worm and that can result in intestinal obstruction. An infection that is caused by nematodes of the genus Anisakis, which is most commonly transmitted via ingestion of infective larvae from consumption of raw or undercooked fish or squid; it is characterized by invasion of the stomach wall or intestines, resulting in the death of the worm, and triggering an inflammatory response that surrounds the worm and that can result in intestinal obstruction. C27864 Parasitic Infection C35803 Zoonotic Infection C90259 NICHD Terminology C128394 Angiostrongyliasis Angiostrongyliasis An infection that is caused by nematodes of the genus Angiostrongylus; signs and symptoms are dependent on the invading species, but generally include gastrointestinal symptoms and fever, and can have extraintestinal manifestations (e.g., central nervous system, anterior and posterior eye). An infection that is caused by nematodes of the genus Angiostrongylus; signs and symptoms are dependent on the invading species, but generally include gastrointestinal symptoms and fever, and can have extraintestinal manifestations (e.g., central nervous system, anterior and posterior eye). C27864 Parasitic Infection C35803 Zoonotic Infection C90259 NICHD Terminology C128395 Gnathostomiasis Gnathostomiasis An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia). An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia). C27864 Parasitic Infection C35803 Zoonotic Infection C90259 NICHD Terminology C128396 Enterobiasis Enterobiasis Pinworm Infection || Threadworm Infection An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus. An infection that is caused by the nematode Enterobius vermicularis; it is characterized predominantly by perianal pruritus. C27864 Parasitic Infection C90259 NICHD Terminology C128397 Baylisascariasis Baylisascariasis Raccoon Roundworm Infection An infection that is caused by the raccoon nematode Baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses. An infection that is caused by the raccoon nematode Baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses. C27864 Parasitic Infection C35803 Zoonotic Infection C90259 NICHD Terminology C128398 Strongyloidiasis Strongyloidiasis An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection. An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection. C27864 Parasitic Infection C90259 NICHD Terminology C128399 Trichuriasis Trichuriasis Whipworm Infection An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea. An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea. C27864 Parasitic Infection C35803 Zoonotic Infection C90259 NICHD Terminology C128400 Myiasis Myiasis The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes. The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes. C27864 Parasitic Infection C35803 Zoonotic Infection C90259 NICHD Terminology C128401 Pediculosis Pediculosis Lice Infestation A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash. A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash. C27864 Parasitic Infection C90259 NICHD Terminology C128402 Herpetic Whitlow Herpetic Whitlow A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2. A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2. C3439 Viral Infection C90259 NICHD Terminology C128403 Suppurative Parotitis Suppurative Parotitis Parotitis that is caused by a bacterial agent. Parotitis that is caused by a bacterial agent. C114281 Parotitis C90259 NICHD Terminology C128404 Bacterial Pericarditis Bacterial Pericarditis Pericarditis that is caused by an infection with a bacterial agent. Pericarditis that is caused by an infection with a bacterial agent. C34915 Pericarditis C2890 Bacterial Infection C90259 NICHD Terminology C128405 Viral Pericarditis Viral Pericarditis Pericarditis that is caused by an infection with a viral agent. Pericarditis that is caused by an infection with a viral agent. C34915 Pericarditis C3439 Viral Infection C90259 NICHD Terminology C128406 Fungal Pericarditis Fungal Pericarditis Pericarditis that is caused by an infection with a fungal agent. Pericarditis that is caused by an infection with a fungal agent. C3245 Fungal Infection C34915 Pericarditis C90259 NICHD Terminology C128407 Bacterial Peritonitis Bacterial Peritonitis Peritonitis that is caused by a bacterial infection. Peritonitis that is caused by a bacterial infection. C2890 Bacterial Infection C26849 Peritonitis C90259 NICHD Terminology C128408 Cryptosporidiosis Cryptosporidiosis Cryptosporidium Infection An infection that is caused by Cryptosporidium parvum or hominis, which is acquired by inhalation or ingestion of infectious spores, and which typically manifests as acute enteritis. An infection that is caused by Cryptosporidium parvum or hominis, which is acquired by inhalation or ingestion of infectious spores, and which typically manifests as acute enteritis. C34953 Protozoal Infection C90259 NICHD Terminology C128409 Cyclosporiasis Cyclosporiasis A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain. A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain. C34953 Protozoal Infection C90259 NICHD Terminology C128410 Rocky Mountain Spotted Fever Rocky Mountain Spotted Fever An infection that is caused by Rickettsia rickettsii, which is transmitted to humans from infected ticks; it is characterized by the sudden onset of fever, headache, and myalgia, followed by rash that usually begins peripherally. An infection that is caused by Rickettsia rickettsii, which is transmitted to humans from infected ticks; it is characterized by the sudden onset of fever, headache, and myalgia, followed by rash that usually begins peripherally. C35803 Zoonotic Infection C3439 Viral Infection C90259 NICHD Terminology C128411 Acute Sinusitis Acute Sinusitis Sinusitis lasting less than or equal to thirty days. Sinusitis lasting less than or equal to thirty days. C35024 Sinusitis C90259 NICHD Terminology C128412 Primary Syphilis Primary Syphilis The subclinical or symptomatic stage of syphilis, occurring at an average of three weeks after contact with an infected individual. It manifests with one or more painless, indurated ulcers (chancres) of the skin or mucous membranes at the site of inoculation. These lesions heal spontaneously within a few weeks. The subclinical or symptomatic stage of syphilis, occurring at an average of three weeks after contact with an infected individual. It manifests with one or more painless, indurated ulcers (chancres) of the skin or mucous membranes at the site of inoculation. These lesions heal spontaneously within a few weeks. C35055 Syphilis C90259 NICHD Terminology C128413 Secondary Syphilis Secondary Syphilis The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage. The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage. C35055 Syphilis C90259 NICHD Terminology C128414 Tertiary Syphilis Tertiary Syphilis Late Syphilis A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis). A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis). C35055 Syphilis C90259 NICHD Terminology C128415 Multidrug-Resistant Tuberculosis Multidrug-Resistant Tuberculosis MDR-TB || Multidrug-Resistant TB Tuberculosis disease that is caused by a multidrug-resistant strain of Mycobacterium tuberculosis. Tuberculosis disease that is caused by a multidrug-resistant strain of Mycobacterium tuberculosis. C3423 Tuberculosis C90259 NICHD Terminology C128416 Pre-Extensively Drug-Resistant Tuberculosis Pre-Extensively Drug-Resistant Tuberculosis Pre-Extensively Drug-Resistant TB || Pre-XDR-TB Tuberculosis disease that is caused by a pre-extensively drug-resistant strain of Mycobacterium tuberculosis. Tuberculosis disease that is caused by a pre-extensively drug-resistant strain of Mycobacterium tuberculosis. C3423 Tuberculosis C90259 NICHD Terminology C128417 Extensively Drug-Resistant Tuberculosis Extensively Drug-Resistant Tuberculosis Extensively Drug-Resistant TB || XDR-TB Tuberculosis disease that is caused by an extensively drug-resistant strain of Mycobacterium tuberculosis. Tuberculosis disease that is caused by an extensively drug-resistant strain of Mycobacterium tuberculosis. C3423 Tuberculosis C90259 NICHD Terminology C128418 Lassa Fever Lassa Fever A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss. A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss. C36170 Viral Hemorrhagic Fever C35803 Zoonotic Infection C90259 NICHD Terminology C128419 Rift Valley Fever Rift Valley Fever RVF A viral hemorrhagic fever that is caused by the Rift Valley fever virus, which is transmitted by mosquitoes and infected animals. The infection is typically asymptomatic or causes only mild illness, but can be associated with retinitis. A viral hemorrhagic fever that is caused by the Rift Valley fever virus, which is transmitted by mosquitoes and infected animals. The infection is typically asymptomatic or causes only mild illness, but can be associated with retinitis. C36170 Viral Hemorrhagic Fever C35803 Zoonotic Infection C90259 NICHD Terminology C128420 Roseola Infantum Roseola Infantum Exanthem Subitum || Roseola An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk. An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk. C3439 Viral Infection C90259 NICHD Terminology C128421 Monkeypox Monkeypox An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks. An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks. C35803 Zoonotic Infection C3439 Viral Infection C90259 NICHD Terminology C128422 Chikungunya Chikungunya An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia. An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia. C35803 Zoonotic Infection C3439 Viral Infection C90259 NICHD Terminology C128423 Zika Virus Infection Zika An infection that is caused by the Zika virus, which is primarily transmitted via mosquitoes; it is characterized by fever, skin rash, arthralgia, and conjunctivitis. An infection that is caused by the Zika virus, which is primarily transmitted via mosquitoes; it is characterized by fever, skin rash, arthralgia, and conjunctivitis. C3439 Viral Infection C90259 NICHD Terminology C128424 Middle East Respiratory Syndrome Middle East Respiratory Syndrome MERS A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome. A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome. C35803 Zoonotic Infection C3439 Viral Infection C90259 NICHD Terminology C128425 Anaplasmosis Anaplasmosis An infection that is caused by Anaplasma phagocytophilum, which is transmitted to humans by infected ticks; it is characterized by fever, headache, chills, and myalgia. An infection that is caused by Anaplasma phagocytophilum, which is transmitted to humans by infected ticks; it is characterized by fever, headache, chills, and myalgia. C35803 Zoonotic Infection C2890 Bacterial Infection C90259 NICHD Terminology C128426 Louse-Borne Relapsing Fever Louse-Borne Relapsing Fever An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated. An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected lice; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated. C2890 Bacterial Infection C90259 NICHD Terminology C128427 Southern Tick-Associated Rash Illness Southern Tick-Associated Rash Illness Masters Disease || STARI A putative Borrelia infection causing acute manifestations similar to Lyme disease, particularly erythema migrans, following the bite of the lone star tick, Amblyomma americanum. A putative Borrelia infection causing acute manifestations similar to Lyme disease, particularly erythema migrans, following the bite of the lone star tick, Amblyomma americanum. C35803 Zoonotic Infection C2890 Bacterial Infection C90259 NICHD Terminology C128428 Infectious Hidradenitis Infectious Hidradenitis Hidradenitis that is caused by an infectious agent, usually a bacterium. Hidradenitis that is caused by an infectious agent, usually a bacterium. C112190 Hidradenitis C26726 Infectious Disorder C90259 NICHD Terminology C128429 Hidradenitis Suppurativa Hidradenitis Suppurativa A chronic, suppurative inflammation of the apocrine sweat glands, that is characterized by clusters of bumps or sores. A chronic, suppurative inflammation of the apocrine sweat glands, that is characterized by clusters of bumps or sores. C112190 Hidradenitis C36281 Integumentary System Finding C90259 NICHD Terminology C128430 Early Latent Syphilis Early Latent Syphilis Latent syphilis when infection was acquired less than twelve months previously. Latent syphilis when infection was acquired less than twelve months previously. C35056 Latent Syphilis C90259 NICHD Terminology C128431 Multidrug-Resistant Mycobacterium tuberculosis Multidrug-Resistant Mycobacterium tuberculosis A strain of Mycobacterium tuberculosis that is resistant to isoniazid and rifampin. A strain of Mycobacterium tuberculosis that is resistant to isoniazid and rifampin. C14187 Bacteria C90259 NICHD Terminology C128432 Pre-Extensively Drug-Resistant Mycobacterium tuberculosis Pre-Extensively Drug-Resistant Mycobacterium tuberculosis A strain of Mycobacterium tuberculosis that is characterized by resistance to isoniazid, rifampin, and one of the following: a) any of the fluoroquinolone antibiotics or b) one or more of three injectable drugs (kanamycin, capreomycin, amikacin). A strain of Mycobacterium tuberculosis that is characterized by resistance to isoniazid, rifampin, and one of the following: a) any of the fluoroquinolone antibiotics or b) one or more of three injectable drugs (kanamycin, capreomycin, amikacin). C14187 Bacteria C90259 NICHD Terminology C128433 Extensively Drug-Resistant Mycobacterium tuberculosis Extensively Drug-Resistant Mycobacterium tuberculosis A strain of Mycobacterium tuberculosis that is resistant to all of the following: isoniazid, rifampin, any of the fluoroquinolone antibiotics, and at least one of three injectable drugs (kanamycin, capreomycin, amikacin). A strain of Mycobacterium tuberculosis that is resistant to all of the following: isoniazid, rifampin, any of the fluoroquinolone antibiotics, and at least one of three injectable drugs (kanamycin, capreomycin, amikacin). C14187 Bacteria C90259 NICHD Terminology C128434 Rhinosinusitis Rhinosinusitis Inflammation of the mucous membranes lining the nose and paranasal sinuses. Inflammation of the mucous membranes lining the nose and paranasal sinuses. C35024 Sinusitis C26726 Infectious Disorder C90259 NICHD Terminology C128436 Tonsillopharyngitis Tonsillopharyngitis Inflammation of the palatine tonsils and the posterior pharynx (throat). Inflammation of the palatine tonsils and the posterior pharynx (throat). C118420 Otolaryngologic Disorder C90259 NICHD Terminology C128438 Variant Creutzfeldt-Jakob Disease Variant Creutzfeldt-Jakob Disease vCJD A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy. A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy. C26802 Classic Creutzfeldt-Jakob Disease C90259 NICHD Terminology C128439 Hand Foot and Mouth Disease Hand, Foot, and Mouth Disease HFMD A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks. A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks. C3439 Viral Infection C90259 NICHD Terminology C128441 Carrión Disease Carrión Disease Carrion Disease An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya Fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise. An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya Fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise. C35803 Zoonotic Infection C2890 Bacterial Infection C90259 NICHD Terminology C129635 Acquired Hyperthyroidism Acquired Hyperthyroidism Hyperthyroidism, the cause of which is not present from birth. Hyperthyroidism, the cause of which is not present from birth. C3123 Hyperthyroidism C90259 NICHD Terminology C129636 Acquired Hypoparathyroidism Acquired Hypoparathyroidism Hypoparathyroidism, the cause of which is not present at birth. Hypoparathyroidism, the cause of which is not present at birth. C78350 Hypoparathyroidism C90259 NICHD Terminology C129637 Adipsic Diabetes Insipidus Adipsic Diabetes Insipidus Diabetes insipidus complicated by a deficient or absent thirst response to hyperosmolality, usually as a result of hypothalamic damage or dysfunction. Diabetes insipidus complicated by a deficient or absent thirst response to hyperosmolality, usually as a result of hypothalamic damage or dysfunction. C43263 Diabetes Insipidus C90259 NICHD Terminology C129644 Acquired Hypothyroidism Acquired Hypothyroidism Hypothyroidism, the cause of which is not present at birth. Hypothyroidism, the cause of which is not present at birth. C26800 Hypothyroidism C90259 NICHD Terminology C129718 47,XXX Syndrome 47,XXX Syndrome 47,XXX || Triple X Syndrome || Trisomy X A condition caused by the presence of an extra X chromosome resulting in 47,XXX karyotype in an individual with female phenotype. The condition is characterized by tall stature, increased risk of learning disabilities, and delayed development of speech and language. A condition caused by the presence of an extra X chromosome resulting in 47,XXX karyotype in an individual with female phenotype. The condition is characterized by tall stature, increased risk of learning disabilities, and delayed development of speech and language. C28193 Syndrome C90259 NICHD Terminology C129720 Aarskog Syndrome Aarskog Syndrome Aarskog-Scott Syndrome || FGD || Faciogenital Dysplasia An X-linked condition associated in a subset of cases with mutation(s) in the FGD1 gene, encoding a complex signaling protein containing FYVE, RhoGEF, and PH domains. The condition is usually characterized by distinctive facial features, short stature, skeletal anomalies, shawl scrotum (altered anatomical relationship between the penis and the scrotum) cryptorchidism, and developmental delay. An X-linked condition associated in a subset of cases with mutation(s) in the FGD1 gene, encoding a complex signaling protein containing FYVE, RhoGEF, and PH domains. The condition is usually characterized by distinctive facial features, short stature, skeletal anomalies, shawl scrotum (altered anatomical relationship between the penis and the scrotum) cryptorchidism, and developmental delay. C28193 Syndrome C90259 NICHD Terminology C129721 Albright Hereditary Osteodystrophy with Multiple Hormone Resistance Albright Hereditary Osteodystrophy with Multiple Hormone Resistance PHP1a || Pseudohypoparathyroidism Type 1a Parathyroid hormone (PTH) resistance caused by heterozygous inactivating mutation(s) of the maternal allele of the GNAS gene encoding Gs-alpha, resulting in expression of PTH from only the paternal allele. Clinical manifestations include Albright hereditary osteodystrophy, early-onset obesity, and, in some cases, resistance to thyroid-stimulating hormone, gonadotropins, and growth hormone-releasing hormone, reflecting additional manifestations of Gs-alpha deficiency. Parathyroid hormone (PTH) resistance caused by heterozygous inactivating mutation(s) of the maternal allele of the GNAS gene encoding Gs-alpha, resulting in expression of PTH from only the paternal allele. Clinical manifestations include Albright hereditary osteodystrophy, early-onset obesity, and, in some cases, resistance to thyroid-stimulating hormone, gonadotropins, and growth hormone-releasing hormone, reflecting additional manifestations of Gs-alpha deficiency. C118434 Albright Hereditary Osteodystrophy C90259 NICHD Terminology C129722 Albright Hereditary Osteodystrophy without Multiple Hormone Resistance Albright Hereditary Osteodystrophy without Multiple Hormone Resistance PPHP || Pseudopseudohypoparathyroidism A condition caused by inactivating mutation(s) in the paternal allele of the GNAS gene, encoding Gs-alpha, resulting in expression of the Gs-alpha protein from only the maternal allele. Affected individuals have the clinical phenotype of Albright hereditary osteodystrophy without hormone resistance. A condition caused by inactivating mutation(s) in the paternal allele of the GNAS gene, encoding Gs-alpha, resulting in expression of the Gs-alpha protein from only the maternal allele. Affected individuals have the clinical phenotype of Albright hereditary osteodystrophy without hormone resistance. C118434 Albright Hereditary Osteodystrophy C90259 NICHD Terminology C129723 Acquired Partial Lipodystrophy Acquired Partial Lipodystrophy Partial lipodystrophy, the cause of which is not present at birth. Examples include lipodystrophy associated with human immunodeficiency virus (HIV) therapy, and Barraquer-Simons syndrome, associated with C3 nephritic factor. Partial lipodystrophy, the cause of which is not present at birth. Examples include lipodystrophy associated with human immunodeficiency virus (HIV) therapy, and Barraquer-Simons syndrome, associated with C3 nephritic factor. C97093 Lipodystrophy C90259 NICHD Terminology C129724 Acute Suppurative Thyroiditis Acute Suppurative Thyroiditis Thyroiditis due to a bacterial infection. Thyroiditis due to a bacterial infection. C26894 Thyroiditis C90259 NICHD Terminology C129725 Anovulatory Cycle Anovulatory Cycle Anovulation A menstrual cycle in which no ovulation occurs. A menstrual cycle in which no ovulation occurs. C36285 Endocrine System Finding C90259 NICHD Terminology C129726 Autoimmune Polyglandular Syndrome Autoimmune Polyglandular Syndrome(s) Autoimmune Polyendocrine Syndrome || Polyglandular Autoimmune Syndrome A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues. A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues. C28193 Syndrome C90259 NICHD Terminology C129727 Autoimmune Polyglandular Syndrome Type 1 Autoimmune Polyglandular Syndrome Type 1 APECED Syndrome || APS1 || Autoimmune Polyendocrine Syndrome Type 1 || Autoimmune Polyendocrinopathy-candidiasis-ectodermal Dystrophy Syndrome || Polyglandular Autoimmune Syndrome Type 1 Autoimmune polyglandular syndrome caused by homozygous, compound heterozygous, or heterozygous mutation(s) in the AIRE gene, encoding autoimmune regulator protein. Diagnosis requires at least 2 of the 3 major clinical features: chronic mucocutaneous candidiasis, primary adrenal insufficiency, or primary hypoparathyroidism. Antibodies against type 1 interferons and interleukin 17 cytokines are almost always present. Heterozygous AIRE mutation(s) typically result in a narrower disease spectrum. Autoimmune polyglandular syndrome caused by homozygous, compound heterozygous, or heterozygous mutation(s) in the AIRE gene, encoding autoimmune regulator protein. Diagnosis requires at least 2 of the 3 major clinical features: chronic mucocutaneous candidiasis, primary adrenal insufficiency, or primary hypoparathyroidism. Antibodies against type 1 interferons and interleukin 17 cytokines are almost always present. Heterozygous AIRE mutation(s) typically result in a narrower disease spectrum. C28193 Syndrome C90259 NICHD Terminology C129728 Autoimmune Polyglandular Syndrome Type 2 Autoimmune Polyglandular Syndrome Type 2 APS2 || Schmidt Syndrome Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis. Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis. C28193 Syndrome C90259 NICHD Terminology C129729 Autonomous Ovarian Follicular Cyst Autonomous Ovarian Follicular Cyst A cyst arising from an ovarian follicle that produces hormones independent of gonadotropin stimulation. A cyst arising from an ovarian follicle that produces hormones independent of gonadotropin stimulation. C26841 Ovarian Disorder C90259 NICHD Terminology C129730 Autosomal Dominant Hypoparathyroidism Autosomal Dominant Hypoparathyroidism Hypoparathyroidism associated with heterozygous mutation(s) in the PTH gene, which encodes parathyroid hormone, or in the GCM2 gene, which encodes chorion-specific transcription factor GCMb. Hypoparathyroidism associated with heterozygous mutation(s) in the PTH gene, which encodes parathyroid hormone, or in the GCM2 gene, which encodes chorion-specific transcription factor GCMb. C78350 Hypoparathyroidism C90259 NICHD Terminology C129731 Autosomal Recessive Hypoparathyroidism Autosomal Recessive Hypoparathyroidism Hypoparathyroidism associated with homozygous mutation(s) in the PTH gene, which encodes parathyroid hormone, or in the GCM2 gene, which encodes chorion-specific transcription factor GCMb. Hypoparathyroidism associated with homozygous mutation(s) in the PTH gene, which encodes parathyroid hormone, or in the GCM2 gene, which encodes chorion-specific transcription factor GCMb. C78350 Hypoparathyroidism C90259 NICHD Terminology C129732 Autosomal Dominant Osteopetrosis Autosomal Dominant Osteopetrosis Albers-Schonberg Disease || Marble Bone Disease An autosomal dominant form of osteopetrosis due to mutation(s) in the CLCN7 gene, encoding H(+)/Cl(-) exchange transporter 7. Clinical features include sclerosis involving the spine, the pelvis, and the base of the skull. Complications can include optic nerve compression, dental abscesses, anemia, and bone fragility. One third of individuals who carry a CLCN7 mutation have a normal skeletal phenotype. An autosomal dominant form of osteopetrosis due to mutation(s) in the CLCN7 gene, encoding H(+)/Cl(-) exchange transporter 7. Clinical features include sclerosis involving the spine, the pelvis, and the base of the skull. Complications can include optic nerve compression, dental abscesses, anemia, and bone fragility. One third of individuals who carry a CLCN7 mutation have a normal skeletal phenotype. C26840 Osteopetrosis C90259 NICHD Terminology Autosomal Dominant Osteopetrosis Type 2 || Benign Osteopetrosis C129733 Autosomal Recessive Osteopetrosis Autosomal Recessive Osteopetrosis Malignant Osteopetrosis An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration. An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration. C26840 Osteopetrosis C90259 NICHD Terminology C129734 Autosomal Recessive Infantile Hypercalcemia Autosomal Recessive Infantile Hypercalcemia A condition caused by autosomal recessive loss-of-function mutation(s) in the CYP24A1 or SLC34A1 gene, encoding mitochondrial 1,25-dihydroxyvitamin D(3) 24-hydroxylase, and sodium-dependent phosphate transport protein 2A, respectively. This condition is characterized by vomiting, polyuria, dehydration, and failure to thrive, accompanied by hypercalcemia, suppressed parathyroid hormone, and nephrocalcinosis. A condition caused by autosomal recessive loss-of-function mutation(s) in the CYP24A1 or SLC34A1 gene, encoding mitochondrial 1,25-dihydroxyvitamin D(3) 24-hydroxylase, and sodium-dependent phosphate transport protein 2A, respectively. This condition is characterized by vomiting, polyuria, dehydration, and failure to thrive, accompanied by hypercalcemia, suppressed parathyroid hormone, and nephrocalcinosis. C3101 Genetic Disorder C90259 NICHD Terminology Idiopathic Infantile Hypercalcemia C129735 Dipsogenic Diabetes Insipidus Dipsogenic Diabetes Insipidus Primary Polydipsia Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism. Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism. C43263 Diabetes Insipidus C90259 NICHD Terminology C129736 Autosomal Dominant Neurohypophyseal Diabetes Insipidus Autosomal Dominant Neurohypophyseal Diabetes Insipidus ADNDI An autosomal dominant form of diabetes insipidus caused by mutation(s) in the AVP gene encoding arginine vasopressin. An autosomal dominant form of diabetes insipidus caused by mutation(s) in the AVP gene encoding arginine vasopressin. C43263 Diabetes Insipidus C90259 NICHD Terminology C129739 Monogenic Diabetes Monogenic Diabetes Diabetes mellitus caused by mutation(s) in a single gene, usually presenting in childhood or early adulthood. Diabetes mellitus caused by mutation(s) in a single gene, usually presenting in childhood or early adulthood. C2985 Diabetes Mellitus C90259 NICHD Terminology MODY || Maturity Onset Diabetes of the Young C129741 Glucokinase-Associated Diabetes Mellitus Glucokinase-Associated Diabetes Mellitus GCK-Associated Diabetes Mellitus Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes. Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes. C129739 Monogenic Diabetes C90259 NICHD Terminology MODY2 || Maturity-Onset Diabetes of the Young, Type 2 C129742 Hepatocyte Nuclear Factor 1-Alpha-Associated Monogenic Diabetes Hepatocyte Nuclear Factor 1-Alpha-Associated Monogenic Diabetes HNF1A-Associated Monogenic Diabetes Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha. Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha. C129739 Monogenic Diabetes C90259 NICHD Terminology Maturity-Onset Diabetes of the Young, Type 3 C129744 Hepatocyte Nuclear Factor 4-Alpha Associated Monogenic Diabetes Hepatocyte Nuclear Factor 4-Alpha Associated Monogenic Diabetes HNF4a-Associated Monogenic Diabetes Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha. Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha. C129739 Monogenic Diabetes C90259 NICHD Terminology Maturity-Onset Diabetes of the Young, Type 1 C129745 Neurogenic Differentiation Factor 1-Associated Monogenic Diabetes Neurogenic Differentiation Factor 1-Associated Monogenic Diabetes NEUROD1-Associated Monogenic Diabetes Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes. Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes. C129739 Monogenic Diabetes C90259 NICHD Terminology Maturity Onset Diabetes of the Young, Type 6 C129746 PDX1-Associated Monogenic Diabetes PDX1-Associated Monogenic Diabetes Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes. Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes. C129739 Monogenic Diabetes C90259 NICHD Terminology Maturity Onset Diabetes of the Young, Type 4 C129747 SUR1-Associated Diabetes Mellitus SUR1-Associated Diabetes Mellitus Diabetes mellitus caused by activating mutation(s) in the ABCC8 gene, encoding the sulfonylurea receptor 1 (SUR1) subunit of the pancreatic beta cell adenosine triphosphate-sensitive potassium channel. Note: Inactivating mutation(s) in the ABCC8 gene result in hyperinsulinism. Diabetes mellitus caused by activating mutation(s) in the ABCC8 gene, encoding the sulfonylurea receptor 1 (SUR1) subunit of the pancreatic beta cell adenosine triphosphate-sensitive potassium channel. Note: Inactivating mutation(s) in the ABCC8 gene result in hyperinsulinism. C129739 Monogenic Diabetes C90259 NICHD Terminology C129748 Transcription Factor-Associated Monogenic Diabetes Transcription Factor-Associated Monogenic Diabetes Monogenic diabetes caused by inactivating mutation(s) in transcription factors regulating expression of pancreatic beta cell genes. Monogenic diabetes caused by inactivating mutation(s) in transcription factors regulating expression of pancreatic beta cell genes. C129739 Monogenic Diabetes C90259 NICHD Terminology C129760 Kir6.2-Associated Diabetes Mellitus Kir6.2-Associated Diabetes Mellitus Diabetes mellitus caused by activating mutation(s) in the KCNJ11 gene, encoding the inwardly rectifying Kir6.2 subunit of the pancreatic beta cell adenosine triphosphate-sensitive potassium channel. Note: Inactivating mutation(s) in the KCNJ11 gene result in hyperinsulinism. Diabetes mellitus caused by activating mutation(s) in the KCNJ11 gene, encoding the inwardly rectifying Kir6.2 subunit of the pancreatic beta cell adenosine triphosphate-sensitive potassium channel. Note: Inactivating mutation(s) in the KCNJ11 gene result in hyperinsulinism. C129739 Monogenic Diabetes C90259 NICHD Terminology C129867 Growth Hormone Insensitivity Syndrome Growth Hormone Insensitivity Syndromes A group of inherited syndromes in which there is impaired growth hormone signaling, despite normal or increased growth hormone concentrations. The syndromes are characterized by some or all of the following: prenatal and/or postnatal growth failure, immature facial features, microcephaly, neurocognitive deficiencies, sensorineural hearing loss, immune dysregulation, and delayed puberty. A group of inherited syndromes in which there is impaired growth hormone signaling despite normal or increased growth hormone concentrations. The syndromes are characterized by some or all of the following: prenatal and/or postnatal growth failure, immature facial features, microcephaly, neurocognitive deficiencies, sensorineural hearing loss, immune dysregulation, and delayed puberty. C28193 Syndrome C90259 NICHD Terminology C130982 10p13-p14 Deletion Syndrome 10p13-p14 Deletion Syndrome DGS2 || DiGeorge Syndrome Type 2 A congenital condition caused by a deletion on the short arm of chromosome 10p13-p14. The NEBL gene, encoding nebulette, a heart-specific component of the sarcomere, may be responsible for the clinical findings. The condition is characterized by immunodeficiency, unusual facies, congenital heart anomalies (tetralogy of Fallot, pulmonary atresia with ventricular septal defect, truncus arteriosus, interrupted aortic arch, isolated anomalies of the aortic arch, and ventricular septal defect), hypoparathyroidism, and increased susceptibility to infections. A congenital condition caused by a deletion on the short arm of chromosome 10p13-p14. The NEBL gene, encoding nebulette, a heart-specific component of the sarcomere, may be responsible for the clinical findings. The condition is characterized by immunodeficiency, unusual facies, congenital heart anomalies (tetralogy of Fallot, pulmonary atresia with ventricular septal defect, truncus arteriosus, interrupted aortic arch, isolated anomalies of the aortic arch, and ventricular septal defect), hypoparathyroidism, and increased susceptibility to infections. C28193 Syndrome C90259 NICHD Terminology C130983 Barakat Syndrome Barakat Syndrome Hypoparathyroidism, Deafness, and Renal Anomalies Syndrome A condition characterized by hypoparathyroidism, sensorineural deafness, and renal failure. It is related to autosomal dominant inactivating mutation(s) in GATA3, encoding a transcription factor important for the embryonic development of the parathyroid gland, the auditory stem, and the kidneys. A condition characterized by hypoparathyroidism, sensorineural deafness, and renal failure. It is related to autosomal dominant inactivating mutation(s) in GATA3, encoding a transcription factor important for the embryonic development of the parathyroid gland, the auditory stem, and the kidneys. C28193 Syndrome C90259 NICHD Terminology C130985 Cole-Carpenter Syndrome Cole-Carpenter Syndrome Bone dysplasia due to autosomal dominant mutation(s) in the P4HB gene, encoding prolyl 4-hydroxylase subunit beta, or autosomal recessive mutation(s) in the SEC24D gene, encoding SEC24 homolog D, COPII coat complex component. This condition is characterized by bone fragility, growth failure, craniosynostosis, hydrocephalus, and distinctive facial features, including marked frontal bossing, blue sclerae, ocular proptosis, midface hypoplasia, and micrognathia. Bone dysplasia due to autosomal dominant mutation(s) in the P4HB gene, encoding prolyl 4-hydroxylase subunit beta, or autosomal recessive mutation(s) in the SEC24D gene, encoding SEC24 homolog D, COPII coat complex component. This condition is characterized by bone fragility, growth failure, craniosynostosis, hydrocephalus, and distinctive facial features, including marked frontal bossing, blue sclerae, ocular proptosis, midface hypoplasia, and micrognathia. C28193 Syndrome C90259 NICHD Terminology C130986 Distal 18q Deletion Syndrome Distal 18q Deletion Syndrome A contiguous gene deletion syndrome involving deletion of the distal portion of the long arm of chromosome 18. The clinically heterogenous condition is characterized by some or all of the following: growth hormone deficiency with resulting short stature; hand, foot, skull, facial, and genital anomalies; hypotonia; and developmental delay. A contiguous gene deletion syndrome involving deletion of the distal portion of the long arm of chromosome 18. The clinically heterogenous condition is characterized by some or all of the following: growth hormone deficiency with resulting short stature; hand, foot, skull, facial, and genital anomalies; hypotonia; and developmental delay. C28193 Syndrome C90259 NICHD Terminology C130988 IMAGe Syndrome IMAGe Syndrome A condition caused by heterozygous mutation(s) in the CDKN1C gene, encoding cyclin-dependent kinase inhibitor 1C, and characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. A condition caused by heterozygous mutation(s) in the CDKN1C gene, encoding cyclin-dependent kinase inhibitor 1C, and characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. C28193 Syndrome C90259 NICHD Terminology C130989 Immunoglobulin Superfamily Member 1 Deficiency Syndrome Immunoglobulin Superfamily Member 1 Deficiency Syndrome Hypothyroidism Central and Testicular Enlargement An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency. An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency. C28193 Syndrome C90259 NICHD Terminology C130990 Insulin Receptor Mutation - Associated Insulin Resistance Syndromes Insulin Receptor Mutation - Associated Insulin Resistance Syndromes Insulin resistance caused by inactivating mutation(s) in the INSR gene encoding the insulin receptor. Insulin resistance caused by inactivating mutation(s) in the INSR gene encoding the insulin receptor. C28193 Syndrome C90259 NICHD Terminology C130991 Kenny-Caffey Syndrome Kenny-Caffey Syndrome A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia. A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia. C28193 Syndrome C90259 NICHD Terminology C130992 Kenny-Caffey Syndrome Type 1 Kenny-Caffey Syndrome Type 1 An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet. An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet. C28193 Syndrome C90259 NICHD Terminology C130993 Kenny-Caffey Syndrome Type 2 Kenny-Caffey Syndrome Type 2 An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones. An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones. C28193 Syndrome C90259 NICHD Terminology C130994 Laron Syndrome Laron Syndrome Growth Hormone Receptor Deficiency Growth hormone insensitivity syndrome caused by mutation(s) and/or deletion(s) in the GHR gene, encoding the growth hormone receptor. Growth hormone insensitivity syndrome caused by mutation(s) and/or deletion(s) in the GHR gene, encoding the growth hormone receptor. C28193 Syndrome C90259 NICHD Terminology C130995 Low T3 Syndrome Low T3 Syndrome Low Triiodothyronine Syndrome Reduced serum concentration of tri-iodothyronine caused by a variety of non-thyroidal conditions in which there is no dysfunction in the thyroid gland or the hypothalamic-pituitary axis. Reduced serum concentration of tri-iodothyronine caused by a variety of non-thyroidal conditions in which there is no dysfunction in the thyroid gland or the hypothalamic-pituitary axis. C28193 Syndrome C90259 NICHD Terminology C130996 Maternal Diabetes and Deafness Syndrome Maternal Diabetes and Deafness Syndrome MIDD Syndrome || Maternally Inherited Diabetes and Deafness || Maternally Transmitted Diabetes with Deafness A maternally inherited condition characterized by diabetes and sensorineural deafness with onset after the age of 20, caused by mutation(s) in one of several mitochondrial genes, most frequently the MT-TL1 gene, which encodes the mitochondrial transfer RNA for leucine. Some patients may have additional features observed in mitochondrial disorders, including pigmentary retinopathy, ptosis, cardiomyopathy, myopathy, renal problems, and neuropsychiatric symptoms. A maternally inherited condition characterized by diabetes and sensorineural deafness with onset after the age of 20, caused by mutation(s) in one of several mitochondrial genes, most frequently the MT-TL1 gene, which encodes the mitochondrial transfer RNA for leucine. Some patients may have additional features observed in mitochondrial disorders, including pigmentary retinopathy, ptosis, cardiomyopathy, myopathy, renal problems, and neuropsychiatric symptoms. C28193 Syndrome C90259 NICHD Terminology C130997 Mauriac Syndrome Mauriac Syndrome A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features. A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features. C28193 Syndrome C90259 NICHD Terminology C130998 Osteoporosis Pseudoglioma Syndrome Osteoporosis Pseudoglioma Syndrome An autosomal recessive condition caused by homozygous or compound heterozygous inactivating mutation(s) in the gene LRP5, encoding low-density lipoprotein receptor-related protein 5. This condition is characterized by severe juvenile-onset osteoporosis and congenital or juvenile-onset blindness due to a vascularized retinal mass that resembles a glioma. An autosomal recessive condition caused by homozygous or compound heterozygous inactivating mutation(s) in the gene LRP5, encoding low-density lipoprotein receptor-related protein 5. This condition is characterized by severe juvenile-onset osteoporosis and congenital or juvenile-onset blindness due to a vascularized retinal mass that resembles a glioma. C28193 Syndrome C90259 NICHD Terminology C131000 Rabson-Mendenhall Syndrome Rabson-Mendenhall Syndrome An autosomal recessive condition caused by mutation(s) in the INSR gene, encoding the insulin receptor, and characterized by insulin resistance, intrauterine growth restriction (IUGR) and/or failure to thrive, muscle atrophy, hypertrichosis, and distinctive facial features; the condition is typically diagnosed early in life, with death usually occurring before the third decade of life. The symptoms and course of this syndrome are moderately severe as compared to the other two syndromes on the spectrum: Insulin Resistant Diabetes Mellitus with Acanthosis Nigricans and Hyperandrogenism, and Donohoe Syndrome. An autosomal recessive condition caused by mutation(s) in the INSR gene, encoding the insulin receptor, and characterized by insulin resistance, intrauterine growth restriction (IUGR) and/or failure to thrive, muscle atrophy, hypertrichosis, and distinctive facial features; the condition is typically diagnosed early in life, with death usually occurring before the third decade of life. The symptoms and course of this syndrome are moderately severe as compared to the other two syndromes on the spectrum: Insulin Resistant Diabetes Mellitus with Acanthosis Nigricans and Hyperandrogenism, and Donohoe Syndrome. C28193 Syndrome C90259 NICHD Terminology C131001 Rieger Syndrome Rieger Syndrome Axenfeldt-Rieger Syndrome A congenital condition associated with mutation(s) in the PITX2 and/or FOXC1 genes, encoding pituitary homeobox 2 and forkhead box protein C1, respectively. The condition is characterized by anterior segment dysgenesis of the eye(s), iris and corneal anomalies, glaucoma, craniofacial anomalies, hypodontia, and pituitary hypoplasia with hypopituitarism, and hypospadius. A congenital condition associated with mutation(s) in the PITX2 and/or FOXC1 genes, encoding pituitary homeobox 2 and forkhead box protein C1, respectively. The condition is characterized by anterior segment dysgenesis of the eye(s), iris and corneal anomalies, glaucoma, craniofacial anomalies, hypodontia, and pituitary hypoplasia with hypopituitarism, and hypospadius. C28193 Syndrome C90259 NICHD Terminology C131002 Simpson-Golabi-Behmel Syndrome Simpson-Golabi-Behmel Syndrome Simpson Dysmorphia Syndrome An X-linked recessive syndrome caused by mutation(s) in the GPC3, OFD1, or rarely the GPC4 gene, encoding glypican 3, oral-facial-digital syndrome 1 protein, and glypican 4, respectively. The condition is characterized by macrosomia, coarse facies, cryptorchidism, congenital heart, kidney, liver, spleen, and musculoskeletal abnormalities. An X-linked recessive syndrome caused by mutation(s) in the GPC3, OFD1, or rarely the GPC4 gene, encoding glypican 3, oral-facial-digital syndrome 1 protein, and glypican 4, respectively. The condition is characterized by macrosomia, coarse facies, cryptorchidism, congenital heart, kidney, liver, spleen, and musculoskeletal abnormalities. C28193 Syndrome C90259 NICHD Terminology C131003 Single Central Incisor Syndrome Single Central Incisor Syndrome Single Central Maxillary Incisor Syndrome || Solitary Central Maxillary Incisor Syndrome An autosomal dominant condition usually caused by mutation(s) in the SHH gene, encoding sonic hedgehog, a secreted protein involved in the organization and morphology of the developing embryo. This condition is characterized by multiple, mainly midline, developmental variations, including the presence of a tooth in the center of the maxillary dental arch in both primary and permanent dentition, and any combination of the following: holoprosencephaly, congenital nasal malformation (choanal atresia, midnasal stenosis, or congenital pyriform aperture stenosis), cleft lip and/or palate, hypopituitarism (including hypothyroidism and hypogonadism, resulting in variations in genital development including small penis or incomplete masculinization in male infants), congenital heart anomalies, and developmental delay. An autosomal dominant condition usually caused by mutation(s) in the SHH gene, encoding sonic hedgehog, a secreted protein involved in the organization and morphology of the developing embryo. This condition is characterized by multiple, mainly midline, developmental variations, including the presence of a tooth in the center of the maxillary dental arch in both primary and permanent dentition, and any combination of the following: holoprosencephaly, congenital nasal malformation (choanal atresia, midnasal stenosis, or congenital pyriform aperture stenosis), cleft lip and/or palate, hypopituitarism (including hypothyroidism and hypogonadism, resulting in variations in genital development including small penis or incomplete masculinization in male infants), congenital heart anomalies, and developmental delay. C28193 Syndrome C90259 NICHD Terminology C131006 Wilms Tumor 1 Gene Syndromes Wilms Tumor 1 Gene Syndromes WT1 Gene Syndromes A group of syndromes caused by autosomal dominant mutation(s) in the WT1 gene, encoding Wilms tumor protein. A group of syndromes caused by autosomal dominant mutation(s) in the WT1 gene, encoding Wilms tumor protein. C28193 Syndrome C90259 NICHD Terminology C131007 Wolcott-Rallison Syndrome Wolcott-Rallison Syndrome A rare, autosomal recessive condition caused by mutation(s) in the EIF2AK3 gene, which encodes translation initiation factor 2-alpha kinase-3. The condition is characterized by the following: permanent insulin-dependent diabetes, with onset in the neonatal period or infancy; epiphyseal dysplasia; deficient bone mineralization, diagnosed in the first year or two of life; and liver dysfunction, occurring in early childhood. Other features may include intellectual deficit, hypothyroidism, renal dysfunction, neutropenia, and thyroid dysfunction. The manifestations and clinical course are variable. A rare, autosomal recessive condition caused by mutation(s) in the EIF2AK3 gene, which encodes translation initiation factor 2-alpha kinase-3. The condition is characterized by the following: permanent insulin-dependent diabetes, with onset in the neonatal period or infancy; epiphyseal dysplasia; deficient bone mineralization, diagnosed in the first year or two of life; and liver dysfunction, occurring in early childhood. Other features may include intellectual deficit, hypothyroidism, renal dysfunction, neutropenia, and thyroid dysfunction. The manifestations and clinical course are variable. C28193 Syndrome C90259 NICHD Terminology C131008 Hyperandrogenism, Insulin Resistance, Acanthosis Nigricans Syndrome Hyperandrogenism, Insulin Resistance, Acanthosis Nigricans Syndrome HAIR-AN Syndrome A condition characterized by hyperandrogenism, insulin resistance, and acanthosis nigricans, typically associated with obesity in teenage girls. It is considered to be a subtype of polycystic ovarian syndrome, but may occur in male individuals. Etiology is unclear, but some cases may be associated with mutations affecting the tyrosine kinase domain of the insulin receptor. A condition characterized by hyperandrogenism, insulin resistance, and acanthosis nigricans, typically associated with obesity in teenage girls. It is considered to be a subtype of polycystic ovarian syndrome, but may occur in male individuals. Etiology is unclear, but some cases may be associated with mutations affecting the tyrosine kinase domain of the insulin receptor. C28193 Syndrome C90259 NICHD Terminology C131009 Immune Dysregulation, Polyendocrinopathy, and Enteropathy X-Linked Syndrome Immune Dysregulation, Polyendocrinopathy, and Enteropathy X-linked Syndrome IPEX || Immune Dysfunction and Diarrhea Syndrome || X linked Polyendocrinopathy || XLAAD || XPID An X-linked recessive autoimmune condition caused by mutation(s) in the FOXP3 gene, encoding the forkhead box P3 transcription factor. The condition is characterized by infantile onset of severe diarrhea due to enteropathy, type 1 diabetes mellitus, and dermatitis. Associated features may include hypothyroidism, autoimmune hemolytic anemia, thrombocytopenia, lymphadenopathy, hepatitis, and nephritis. The condition is usually fatal before age 2 years if not treated with bone marrow transplantation. An X-linked recessive autoimmune condition caused by mutation(s) in the FOXP3 gene, encoding the forkhead box P3 transcription factor. The condition is characterized by infantile onset of severe diarrhea due to enteropathy, type 1 diabetes mellitus, and dermatitis. Associated features may include hypothyroidism, autoimmune hemolytic anemia, thrombocytopenia, lymphadenopathy, hepatitis, and nephritis. The condition is usually fatal before age 2 years if not treated with bone marrow transplantation. C28193 Syndrome C90259 NICHD Terminology C131010 Mullerian-Renal-Cervical Spine Syndrome Mullerian-Renal-Cervical Spine Syndrome MRKH Type 2 || MURCS Syndrome || Mullerian Duct Aplasia || Unilateral Renal Dysplasia and Cervicothoracic Somite Anomalies A condition characterized by Mullerian duct aplasia, unilateral renal dysplasia, and cervicothoracic anomalies. Other associated findings may include skeletal abnormalities (scoliosis, vertebral anomalies, rib malformations, spina bifida), and face and limb malformations (brachymesophalangy, ectrodactyly). Heart malformations may include valvular pulmonary stenosis, aortopulmonary window, atrial septal defect, and/or tetralogy of Fallot. Putative candidate genes such as HNF1B (17q12), LHX1 (17q12), SHOX (Xp22.33 and Yp11.32), TBX6 ( 16p11.2), and ITIH5 (10p14) may be implicated. A condition characterized by Mullerian duct aplasia, unilateral renal dysplasia, and cervicothoracic anomalies. Other associated findings may include skeletal abnormalities (scoliosis, vertebral anomalies, rib malformations, spina bifida), and face and limb malformations (brachymesophalangy, ectrodactyly). Heart malformations may include valvular pulmonary stenosis, aortopulmonary window, atrial septal defect, and/or tetralogy of Fallot. Putative candidate genes such as HNF1B (17q12), LHX1 (17q12), SHOX (Xp22.33 and Yp11.32), TBX6 ( 16p11.2), and ITIH5 (10p14) may be implicated. C28193 Syndrome C90259 NICHD Terminology C131021 TSHR Gene Mutation Thyroid Stimulating Hormone Receptor Gene Mutation TSH Receptor Defect || Thyrotropin Receptor Defect A change in the nucleotide sequence of the TSHR gene. Mutation(s) in the TSHR gene, resulting in altered function of the thyroid stimulating hormone receptor. C3101 Genetic Disorder C90259 NICHD Terminology C131022 Thyroid-Binding Globulin Deficiency Thyroid-Binding Globulin Deficiency TBG Deficiency Subnormal concentration of thyroid-binding globulin. Subnormal concentration of thyroid binding globulin in a euthyroid individual. C36285 Endocrine System Finding C90259 NICHD Terminology C131023 Thyroid-Binding Globulin Excess Thyroid-Binding Globulin Excess TBG Excess Supranormal concentration of thyroid-binding globulin. Supranormal concentration of thyroid binding globulin in a euthyroid individual. C36285 Endocrine System Finding C90259 NICHD Terminology C131030 Transient Hyperinsulinism Transient Hyperinsulinism Hyperinsulinism that resolves spontaneously. This is the most common cause of neonatal hypoglycemia. Hyperinsulinism that resolves spontaneously. This is the most common cause of neonatal hypoglycemia. C131425 Congenital Hyperinsulinism C90259 NICHD Terminology C131031 Transient Hypothyroxinemia Transient Hypothyroxinemia Reduced concentration of thyroid hormone(s), usually associated with a non-thyroidal illness, that resolves spontaneously. Reduced concentration of thyroid hormone(s), usually associated with a non-thyroidal illness that resolves spontaneously. C26800 Hypothyroidism C90259 NICHD Terminology C131032 Transient Neonatal Hyperparathyroidism Transient Neonatal Hyperparathyroidism Hyperparathyroidism in an infant less than one month a=of age that resolves spontaneously. Hyperparathyroidism in an infant less than one month of age that resolves spontaneously. C48259 Hyperparathyroidism C90259 NICHD Terminology C131034 Transient Primary Hypothyroidism Transient Primary Hypothyroidism Primary hypothyroidism that resolves spontaneously. Primary hypothyroidism that resolves spontaneously. C26800 Hypothyroidism C90259 NICHD Terminology C131046 Thyroid Stimulating Hormone Resistance TSH Resistance TSH Unresponsiveness Reduced response to thyroid stimulating hormone resulting in low thyroid hormone production despite elevated thyroid stimulating hormone, associated with mutation(s) in the TSHR gene. Reduced response to thyroid stimulating hormone, resulting in low thyroid hormone production despite elevated thyroid stimulating hormone, which is associated with mutation(s) in the TSHR gene. C36285 Endocrine System Finding C90259 NICHD Terminology C131059 TXNRD2-Associated Familial Glucocorticoid Deficiency TXNRD2-Associated FGD Familial glucocorticoid deficiency caused by mutation(s) in the TXNRD2 gene encoding thioredoxin reductase 2. Familial glucocorticoid deficiency caused by mutation(s) in the TXNRD2 gene, encoding thioredoxin reductase 2. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C131072 Uninodular Goiter Uninodular Goiter Nodular goiter characterized by one discrete tissue mass. Nodular goiter characterized by one discrete tissue mass. C26785 Goiter C90259 NICHD Terminology C131073 Vitamin D 1 Alpha-Hydroxylase Deficiency Vitamin D 1 Alpha-Hydroxylase Deficiency 1 Alpha-hydroxylase Deficiency || Pseudo Vitamin-D Deficient Rickets || Selective 1-alpha, 25-hydroxyvitamin D3 deficiency || VDDR1 || Vitamin D Hydroxylation-deficient Rickets type 1a || Vitamin D-dependent Rickets Type 1 An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP27B1 gene, encoding 25-hydroxyvitamin D-1 alpha hydroxylase, the renal enzyme that converts 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D (calcitriol), the active metabolite of vitamin D (cholecalciferol). The condition is characterized by reduced serum concentrations of 1 alpha,25-hydroxyvitamin D, normal concentrations of 25-hydroxyvitamin D, increased serum alkaline phosphatase, hypocalcemia due to reduced intestinal calcium absorption, hypophosphatemia due to renal phosphate wasting, secondary hyperparathyroidism, rickets, seizures, muscle weakness and failure to thrive. An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP27B1 gene, encoding 25-hydroxyvitamin D-1 alpha hydroxylase, the renal enzyme that converts 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D (calcitriol), the active metabolite of vitamin D (cholecalciferol). The condition is characterized by reduced serum concentrations of 1 alpha,25-hydroxyvitamin D, normal concentrations of 25-hydroxyvitamin D, increased serum alkaline phosphatase, hypocalcemia due to reduced intestinal calcium absorption, hypophosphatemia due to renal phosphate wasting, secondary hyperparathyroidism, rickets, seizures, muscle weakness, and failure to thrive. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C131074 Vitamin D 25-Hydroxylase Deficiency Vitamin D 25-Hydroxylase Deficiency Vitamin D Hydroxylation-deficient Rickets Type 1b An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets. An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C131075 Vitamin D Dependent Rickets 2a Vitamin D Receptor Deficiency Rickets VDDR2a || Vitamin D Dependent Rickets 2a Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia. Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations, and may also manifest with alopecia. C26878 Rickets C90259 NICHD Terminology C131076 Vitamin D Dependent Rickets 2b Vitamin D Receptor Signaling Defect Rickets Vitamin D Dependent Rickets 2b || Vitamin D Resistant Rickets Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations. Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets, including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations. C26878 Rickets C90259 NICHD Terminology C131077 Vitamin D Dependent Rickets 2 Vitamin D Receptor Deficiency Hereditary 1,25 Dihydroxyvitamin D-resistant Rickets with Abnormal Vitamin D Receptor || VDDR2 || Vitamin D Dependent Rickets 2 An autosomal recessive form of rickets caused by mutation(s) in the VDR gene, encoding the vitamin D receptor. The condition is characterized by hypocalcemia, increased concentrations of calcitriol, secondary hyperparathyroidism, early-onset rickets and alopecia. An autosomal recessive form of rickets caused by mutation(s) in the VDR gene, encoding the vitamin D receptor. The condition is characterized by hypocalcemia, increased concentrations of calcitriol, secondary hyperparathyroidism, early-onset rickets, and alopecia. C26878 Rickets C90259 NICHD Terminology C131078 Wolff-Chaikoff Phenomenon Wolff-Chaikoff Wolff-Chaikoff Syndrome/Phenomenon Hypothyroidism induced by excessive levels of iodine in the blood. Iodine-induced hypothyroidism. C26800 Hypothyroidism C90259 NICHD Terminology C131079 X-Linked Hypoparathyroidism X-linked Hypoparathyroidism Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis). Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis). C78350 Hypoparathyroidism C90259 NICHD Terminology C131080 Testicular Failure Testicular Failure The failure of testicular hormone production and spermatogenesis. Failure of testicular hormone production and spermatogenesis. C26890 Testicular Disorder C90259 NICHD Terminology C131081 Steroidogenic Acute Regulatory Protein Deficiency Steroidogenic Acute Regulatory Protein Deficiency StAR Deficiency Congenital lipoid adrenal hyperplasia (CLAH) due to loss-of-function mutations in the STAR gene, resulting in decreased or absent production of steroidogenic acute regulatory protein (StAR), which leads to deficient transport of cholesterol from the outer to the inner mitochondrial membrane. Congenital lipoid adrenal hyperplasia (CLAH) due to loss-of-function mutations in the STAR gene, resulting in decreased or absent production of steroidogenic acute regulatory protein (StAR), which leads to deficient transport of cholesterol from the outer to the inner mitochondrial membrane. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C131083 11 Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency 11 Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency Apparent Mineralocorticoid Excess Decreased activity of 11-beta-hydroxysteroid dehydrogenase type 2, which catalyzes the conversion of cortisol to cortisone due to autosomal recessive deactivating mutation(s) in the HSD11B2 gene. Resultant elevated cortisol concentrations in the kidney activate the mineralocorticoid receptor, resulting in hypertension, hypokalemia, and hypernatremia. Decreased activity of 11-beta-hydroxysteroid dehydrogenase type 2, which catalyzes the conversion of cortisol to cortisone due to autosomal recessive deactivating mutation(s) in the HSD11B2 gene. Resultant elevated cortisol concentrations in the kidney activate the mineralocorticoid receptor, resulting in hypertension, hypokalemia, and hypernatremia. C3492 Enzyme Deficiency C90259 NICHD Terminology C131084 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency Cortisone Reductase Deficiency Type 2 Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency. Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency. C3492 Enzyme Deficiency C90259 NICHD Terminology C131085 11-Beta-Hydroxylase Deficiency 11-Beta-Hydroxylase Deficiency Decreased or absent activity of the enzyme 11-beta-hydroxylase caused by loss-of-function mutations in the CYP11B1 gene, resulting in congenital adrenal hyperplasia. Clinical manifestations of this condition include virilization in 46XX infants and hypertension. Decreased or absent activity of the enzyme 11-beta-hydroxylase caused by loss-of-function mutations in the CYP11B1 gene, resulting in congenital adrenal hyperplasia. Clinical manifestations of this condition include virilization in 46XX infants and hypertension. C3492 Enzyme Deficiency C90259 NICHD Terminology C131086 17-Alpha-Hydroxylase/17,20 Lyase Deficiency 17-Alpha-Hydroxylase/17,20 Lyase Deficiency Decreased or absent activity of the enzyme 17-alpha-hydroxylase/17,20 lyase due to loss-of-function mutation(s) in the CYP17A1 gene. The clinical manifestations of the deficiency are dependent on whether one or both activities of the enzyme are affected, and may include hypertension due to reduced 17-hydroxylase activity and incomplete genital masculinization in 46,XY infants due to reduced 17,20 lyase activity. Decreased or absent activity of the enzyme 17-alpha-hydroxylase/17,20 lyase due to loss-of-function mutation(s) in the CYP17A1 gene. The clinical manifestations of the deficiency are dependent on whether one or both activities of the enzyme are affected, and may include hypertension due to reduced 17-hydroxylase activity and incomplete genital masculinization in 46,XY infants due to reduced 17,20 lyase activity. C3492 Enzyme Deficiency C90259 NICHD Terminology C131087 21-Hydroxylase Deficiency 21-Hydroxylase Deficiency 21-OHD A classic form of congenital adrenal hyperplasia that is characterized by severe 21-hydroxylase deficiency, resulting in glucocorticoid and mineralocorticoid deficiency, without clinically significant salt wasting, and androgen excess, which causes virilization in female infants. Congenital adrenal hyperplasia caused by loss-of-function mutations in the CYP21A2 gene associated with decreased or absent activity of the 21-hydroxylase enzyme, resulting in inefficient steroidogenesis of glucocorticoids and mineralocorticoids. The clinical manifestations of the deficiency are dependent on the degree of reduction of enzymatic activity. C3492 Enzyme Deficiency C90259 NICHD Terminology C131088 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 3-Beta-Hydroxysteroid Dehydrogenase Deficiency 3-beta HSD Deficiency Congenital adrenal hyperplasia due to presumed mutation(s) in the HSD3B2 gene, which results in decreased activity of the enzyme 3-beta-hydroxysteroid dehydrogenase. The clinical manifestations of the deficiency are dependent on the degree of reduction in enzymatic activity: 46,XY infants may have incomplete development of the genitalia, while 46,XX infants may have virilization. Congenital adrenal hyperplasia due to presumed mutation(s) in the HSD3B2 gene, which results in decreased activity of the enzyme 3-beta-hydroxysteroid dehydrogenase. The clinical manifestations of the deficiency are dependent on the degree of reduction in enzymatic activity: 46,XY infants may have incomplete development of the genitalia, while 46,XX infants may have virilization. C3492 Enzyme Deficiency C90259 NICHD Terminology C131089 Acquired Generalized Lipodystrophy Acquired Generalized Lipodystrophy Generalized lipodystrophy, the cause of which is not present at birth. Generalized lipodystrophy, the cause of which is not present at birth. C97093 Lipodystrophy C90259 NICHD Terminology C131090 Acquired Ovarian Failure Acquired Ovarian Failure Ovarian failure, the cause of which is not present at birth. Ovarian failure, the cause of which is not present at birth. C26841 Ovarian Disorder C90259 NICHD Terminology C131091 Acquired Testicular Failure Acquired Testicular Failure Testicular failure, the cause of which is not present at birth. Testicular failure, the cause of which is not present at birth. C26890 Testicular Disorder C90259 NICHD Terminology C131130 STAT5B Deficiency STAT5B Deficiency Growth hormone insensitivity syndrome caused by mutation(s) in the STAT5B gene, encoding signal transducer and activator of transcription 5B, a protein critical for the transcription of growth hormone-dependent genes. Growth hormone insensitivity syndrome caused by mutation(s) in the STAT5B gene, encoding signal transducer and activator of transcription 5B, a protein critical for the transcription of growth hormone-dependent genes. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C131132 Secondary Parathyroid Hormone Resistance Secondary Parathyroid Hormone Resistance Acquired Parathyroid Hormone Resistance || Pseudohypoparathyroidism, Type 2 Parathyroid hormone (PTH) resistance caused by vitamin D deficiency and characterized by clinically increased PTH concentrations with relative hyperphosphatemia. The diagnosis can be confirmed by finding of a normal cyclic adenosine monophosphate (cAMP) response to PTH infusion, but deficient phosphaturic response, indicating a defect distal to cAMP generation in renal cells. Parathyroid hormone (PTH) resistance caused by vitamin D deficiency, and characterized by clinically increased PTH concentrations with relative hyperphosphatemia. The diagnosis can be confirmed by a finding of a normal cyclic adenosine monophosphate (cAMP) response to PTH infusion, but deficient phosphaturic response, indicating a defect distal to cAMP generation in renal cells. C131298 Parathyroid Hormone Resistance C90259 NICHD Terminology C131133 Sclerosteosis Sclerosteosis Cortical Hyperostosis with Syndactyly An autosomal recessive form of craniotubular hyperostosis due to loss-of-function mutation(s) in the SOST gene, encoding sclerostin. Clinical features include tall stature, enlarged jaw and facial bones, and cranial nerve compression leading to hearing loss and facial palsy. About two-thirds of patients have syndactyly and/or nail malformations. Increased intracranial pressure due to the thickened calvaria and skull base can occur. An autosomal recessive form of craniotubular hyperostosis due to loss-of-function mutation(s) in the SOST gene, encoding sclerostin. Clinical features include tall stature, enlarged jaw and facial bones, and cranial nerve compression leading to hearing loss and facial palsy. About two-thirds of patients have syndactyly and/or nail malformations. Increased intracranial pressure due to the thickened calvaria and skull base can occur. C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C131134 Salt-Wasting 21-Hydroxylase Deficiency Salt-Wasting 21-Hydroxylase Deficiency Salt-wasting 21-OHD A classic form of congenital adrenal hyperplasia characterized by complete absence of 21-hydroxylase activity resulting in deficiency of glucocorticoids and mineralocorticoids accompanied by androgen excess causing virilization in female infants. Mineralocorticoid deficiency results in renal salt-wasting, and if untreated, hyponatremia, hyperkalemia, and shock. A classic form of congenital adrenal hyperplasia characterized by complete absence of 21-hydroxylase activity, resulting in deficiency of glucocorticoids and mineralocorticoids accompanied by androgen excess, causing virilization in female infants. Mineralocorticoid deficiency results in renal salt-wasting, and, if untreated, hyponatremia, hyperkalemia, and shock. C131087 21-Hydroxylase Deficiency C90259 NICHD Terminology C131135 Renal Parathyroid Hormone Resistance Renal Parathyroid Hormone Resistance Pseudohypoparathyroidism Type 1b Parathyroid hormone resistance caused by defects in methylation in the GNAS gene that cause loss of expression of Gs-alpha from the maternal allele in renal tissue, resulting in decreased phosphate excretion and increased calcium excretion. Individuals with this condition may also have brachydactyly and partial resistance to thyroid-stimulating hormone. Parathyroid hormone resistance caused by defects in methylation in the GNAS gene that cause loss of expression of Gs-alpha from the maternal allele in renal tissue, resulting in decreased phosphate excretion and increased calcium excretion. Individuals with this condition may also have brachydactyly and partial resistance to thyroid-stimulating hormone. C131298 Parathyroid Hormone Resistance C90259 NICHD Terminology C131187 Pycnodysostosis Pycnodysostosis An autosomal recessive disorder caused by loss-of-function mutation(s) in the CTSK gene, encoding cathepsin K, an enzyme involved in bone resorption by osteoclasts. This condition is characterized by some or all of the following: osteosclerosis, short stature, pituitary hypoplasia with growth hormone deficiency, and cerebral demyelination. An autosomal recessive disorder caused by loss-of-function mutation(s) in the CTSK gene, encoding cathepsin K, an enzyme involved in bone resorption by osteoclasts. This condition is characterized by some or all of the following: osteosclerosis, short stature, pituitary hypoplasia with growth hormone deficiency, and cerebral demyelination. C3101 Genetic Disorder C90259 NICHD Terminology C131193 Progressive Heterotopic Heteroplasia Progressive Osseous Heteroplasia Loss of function mutation(s) in the paternal allele of the GNAS gene, encoding guanine nucleotide-binding protein G(s) subunit alpha isoforms short resulting in dermal ossification beginning in infancy, followed by increasing and extensive heterotopic bone formation in deep muscle and fascia. A condition caused by loss of function mutation(s) in the paternal allele of the GNAS gene, encoding guanine nucleotide-binding protein G(s) subunit alpha isoforms short. This condition is characterized by dermal ossification beginning in infancy, followed by increasing and extensive heterotopic bone formation in deep muscle and fascia. Other features of Albright hereditary osteodystrophy and hormone resistance are absent. C110937 Musculoskeletal Finding C90259 NICHD Terminology C131195 Primary Testicular Failure Primary Testicular Failure Hypergonadotropic Hypogonadism (Male) Testicular failure due to a condition directly affecting the testes. Testicular failure due to a condition directly affecting the testes. C26890 Testicular Disorder C90259 NICHD Terminology C131196 Primary Pigmented Nodular Adrenal Dysplasia Primary Pigmented Nodular Adrenal Dysplasia PPNAD A subtype of micronodular adrenal hyperplasia, characterized by multiple pigmented nodules, which may occur in isolation or as part of the Carney complex. A subtype of micronodular adrenal hyperplasia, characterized by multiple pigmented nodules, which may occur in isolation or as part of the Carney complex. C127165 Micronodular Adrenal Hyperplasia C90259 NICHD Terminology C131216 Pituitary Resistance to Thyroid Hormone Pituitary Resistance to Thyroid Hormone PitRTH Decreased response to thyroid hormones in the pituitary gland with normal response in peripheral tissues. Decreased response to thyroid hormones in the pituitary gland with normal response in peripheral tissues. C36285 Endocrine System Finding C90259 NICHD Terminology C131275 Peripheral Resistance to Thyroid Hormone Peripheral Resistance to Thyroid Hormone PRTH Decreased response to thyroid hormones in peripheral tissues, with normal response in the pituitary gland. Decreased response to thyroid hormones in peripheral tissues, with normal response in the pituitary gland. C36285 Endocrine System Finding C90259 NICHD Terminology C131277 Perinatal-Stress Induced Hyperinsulinism Perinatal-Stress Induced Hyperinsulinism Transient hyperinsulinism that occurs in response to neonatal stress resulting in prolonged neonatal hypoglycemia, which is distinct from transitional hypoglycemia of typical infants. Transient hyperinsulinism that occurs in response to neonatal stress, resulting in prolonged neonatal hypoglycemia, which is distinct from transitional hypoglycemia of typical infants. C131425 Congenital Hyperinsulinism C90259 NICHD Terminology C131296 Partial Lipodystrophy Partial Lipodystrophy Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body. Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body. C97093 Lipodystrophy C90259 NICHD Terminology C131298 Parathyroid Hormone Resistance Parathyroid Hormone Resistance Pseudohypoparathyroidism A finding indicating decreased tissue sensitivity to parathyroid hormone. A set of disorders characterized by resistance to parathyroid hormone signaling, which results in hypocalcemia and hyperphosphatemia despite increased serum parathyroid hormone concentrations. C36285 Endocrine System Finding C90259 NICHD Terminology C131302 P450 Oxidoreductase Deficiency P450 Oxidoreductase Deficiency Decreased or absent activity of P450 oxidoreductase due to mutation(s) in the POR gene. Decreased or absent activity of P450 oxidoreductase due to mutation(s) in the POR gene. C3492 Enzyme Deficiency C90259 NICHD Terminology C131308 Osteoclast-Rich Osteopetrosis Osteoclast-Rich Osteopetrosis A form of osteopetrosis in which osteoclasts are abundant but have severely impaired resorptive function. A form of osteopetrosis in which osteoclasts are abundant but have severely impaired resorptive function. C26840 Osteopetrosis C90259 NICHD Terminology C131309 Odontohypophosphatasia Odontohypophosphatasia Hypophosphastasia characterized by the premature loss of deciduous teeth, but without accompanying bony abnormalities. Hypophosphastasia characterized by the premature loss of deciduous teeth, but without accompanying bony abnormalities. C26798 Hypophosphatasia C90259 NICHD Terminology C131420 Blomstrand Type Chondrodysplasia Blomstrand Type Chondrodysplasia An autosomal recessive lethal condition caused by inactivating mutation(s) in the PTH1R gene, encoding parathyroid hormone/parathyroid hormone-related peptide receptor. This condition is characterized by short limbs, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and advanced skeletal maturation. An autosomal recessive lethal condition caused by inactivating mutation(s) in the PTH1R gene, encoding parathyroid hormone/parathyroid hormone-related peptide receptor. This condition is characterized by short limbs, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and advanced skeletal maturation. C3101 Genetic Disorder C90259 NICHD Terminology C131421 Calcium Deficiency Rickets Calcium Deficiency Rickets Calciopenic Rickets Rickets due to low calcium concentrations, the cause of which can be nutritional or genetic. Rickets due to low calcium concentrations, the cause of which can be nutritional or genetic. C26878 Rickets C90259 NICHD Terminology C131422 Cholesterol Side-Chain Cleavage Deficiency Cholesterol Side-Chain Cleavage Deficiency P450scc Deficiency CLAH due to loss-of-function mutations in the CYP11A1 gene, resulting in decreased or absent activity of the enzyme P450scc, which leads to reduced conversion of cholesterol to pregnenolone, the first step in steroidogenesis. CLAH due to loss-of-function mutations in the CYP11A1 gene, resulting in decreased or absent activity of the enzyme P450scc, which leads to reduced conversion of cholesterol to pregnenolone, the first step in steroidogenesis. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C131423 Classic Congenital Adrenal Hyperplasia Classic Congenital Adrenal Hyperplasia A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement. A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement. C34360 Congenital Adrenal Hyperplasia C90259 NICHD Terminology C131425 Congenital Hyperinsulinism Congenital Hyperinsulinism HHI || Hyperinsulinemia of Infancy || Hyperinsulinemic Hypoglycemia || Neonatal Hyperinsulinism An etiologically heterogenous condition resulting in dysregulated insulin secretion whose cause is present from birth. It is the most common cause of persistent hypoglycemia in neonates, infants and children. An etiologically heterogenous condition resulting in dysregulated insulin secretion whose cause is present from birth. It is the most common cause of persistent hypoglycemia in neonates, infants and children. C3009 Endocrine System Disorder C90259 NICHD Terminology Nesidioblastosis C131426 Congenital Lipoid Adrenal Hyperplasia Congenital Lipoid Adrenal Hyperplasia CLAH Congenital adrenal hyperplasia resulting from the deposition of lipid in the adrenal glands due to a defect of intracellular cholesterol transport or metabolism. The condition is characterized by deficiencies of glucocorticoids, mineralocorticoids, and sex steroids: 46,XY infants are undervirilized, whereas 46,XX infants have no genital manifestations. Congenital adrenal hyperplasia resulting from the deposition of lipid in the adrenal glands due to a defect of intracellular cholesterol transport or metabolism. The condition is characterized by deficiencies of glucocorticoids, mineralocorticoids, and sex steroids: 46,XY infants are undervirilized, whereas 46,XX infants have no genital manifestations. C34360 Congenital Adrenal Hyperplasia C90259 NICHD Terminology C131427 Congenital Ovarian Failure Congenital Ovarian Failure Ovarian failure, the cause of which is present at birth. Ovarian failure, the cause of which is present at birth. C26841 Ovarian Disorder C90259 NICHD Terminology C131428 Congenital Testicular Failure Congenital Testicular Failure Testicular failure, the cause of which is present at birth. Testicular failure, the cause of which is present at birth. C26890 Testicular Disorder C90259 NICHD Terminology C131429 Craniodiaphyseal Dysplasia Craniodiaphyseal Dysplasia CDD || Lionitis An autosomal dominant or recessive form of craniotubular hyperostosis due to mutation(s) in the SOST gene, encoding sclerostin. This condition is characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones, which is so severe that the resulting facial distortion is referred to as 'leontiasis ossea'; the bone deposition results in progressive stenosis of craniofacial foramina and can lead to severe neurologic impairment in childhood. An autosomal dominant or recessive form of craniotubular hyperostosis due to mutation(s) in the SOST gene, encoding sclerostin. This condition is characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones, which is so severe that the resulting facial distortion is referred to as 'leontiasis ossea'; the bone deposition results in progressive stenosis of craniofacial foramina and can lead to severe neurologic impairment in childhood. C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C131430 Craniotubular Hyperostosis Craniotubular Hyperostosis A group of sclerosing bone dysplasias characterized by pronounced sclerosis of the cranial vault and the long bones, resulting in increased cortical bone density. Most cases are caused by mutation(s) in the SOST or LRP5 genes, encoding sclerostin and low-density lipoprotein receptor-related protein 5, respectively. Other genes have been implicated, and some cases have been described, but do not yet have identified genetic mutations. A group of sclerosing bone dysplasias characterized by pronounced sclerosis of the cranial vault and the long bones, resulting in increased cortical bone density. Most cases are caused by mutation(s) in the SOST or LRP5 genes, encoding sclerostin and low-density lipoprotein receptor-related protein 5, respectively. Other genes have been implicated, and some cases have been described, but do not yet have identified genetic mutations. C3101 Genetic Disorder C90259 NICHD Terminology C131431 Defective Thyroglobulin Synthesis Defective Thyroglobulin Synthesis Impairment in the intracellular synthesis of thyroglobulin. Impairment in the intracellular synthesis of thyroglobulin. C36285 Endocrine System Finding C90259 NICHD Terminology C131432 Defective Thyroglobulin Transport Defective Thyroglobulin Transport Impairment in the intracellular transport of thyroglobulin. Impairment in the intracellular transport of thyroglobulin. C36285 Endocrine System Finding C90259 NICHD Terminology C131433 Neonatal Graves Disease Neonatal Graves Disease Graves disease in the neonate resulting from transplacental passage of thyrotropin receptor antibody. Graves disease in the neonate resulting from transplacental passage of thyrotropin receptor antibody. C3071 Graves Disease C90259 NICHD Terminology C131435 Deiodinase Deficiency Deiodinase Deficiency Dehalogenase Deficiency Presumed loss-of-function mutation(s) in the IYD gene, resulting in reduced activity of the enzyme iodotyrosine deiodinase. Presumed loss-of-function mutation(s) in the IYD gene, resulting in reduced activity of the enzyme iodotyrosine deiodinase. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C131436 Diffuse Goiter Diffuse Goiter Enlargement of the entire thyroid gland without discrete mass(es). Enlargement of the entire thyroid gland without discrete mass(es). C26785 Goiter C90259 NICHD Terminology C131437 Nodular Goiter Nodular Goiter Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones. Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones. C26785 Goiter C90259 NICHD Terminology C131438 Multinodular Goiter Multinodular Goiter Nodular goiter characterized by more than one discrete tissue mass. Nodular goiter characterized by more than one discrete tissue mass. C26785 Goiter C90259 NICHD Terminology C131440 Hypothyroid Goiter Hypothyroid Goiter Goiter associated with reduced thyroid hormone secretion. Goiter associated with reduced thyroid hormone secretion. C26785 Goiter C90259 NICHD Terminology C131442 Non-Classic Congenital Adrenal Hyperplasia Non-Classic Congenital Adrenal Hyperplasia A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement. A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement. C34360 Congenital Adrenal Hyperplasia C90259 NICHD Terminology Late-onset Congenital Adrenal Hyperplasia C131445 Nutritional Calcium Deficient Rickets Nutritional Calcium Deficient Rickets Nutritional Calciopenic Rickets Nutritional rickets due to dietary deficiency of calcium. Nutritional rickets due to dietary deficiency of calcium. C26878 Rickets C90259 NICHD Terminology C131446 Nutritional Hypophosphatemic Rickets Nutritional Hypophosphatemic Rickets Hypophosphatemic rickets due to insufficient dietary phosphate intake or absorption. Hypophosphatemic rickets due to insufficient dietary phosphate intake or absorption. C26878 Rickets C90259 NICHD Terminology C131447 Nutritional Rickets Nutritional Rickets Rickets due to dietary deficiency of calcium, phosphate, or vitamin D. Rickets due to dietary deficiency of calcium, phosphate, or vitamin D. C26878 Rickets C90259 NICHD Terminology C131448 Nutritional Vitamin D Deficiency Rickets Nutritional Vitamin D Deficiency Rickets Nutritional rickets due to dietary deficiency of vitamin D. Nutritional rickets due to dietary deficiency of vitamin D. C26878 Rickets C90259 NICHD Terminology C131449 Hypophosphatemic Rickets Hypophosphatemic Rickets Phosphopenic Rickets Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D. Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D. C26878 Rickets C90259 NICHD Terminology C131450 Hereditary Hypophosphatemic Rickets with Hypercalciuria Hereditary Hypophosphatemic Rickets with Hypercalciuria HHRH || Hypercalciuric Hypophosphatemic Rickets || Hypophosphatemic Hypercalciuric Rickets An autosomal recessive form of hypophosphatemic rickets caused by inactivating mutation(s) in the SLC34A3 gene, encoding sodium-dependent phosphate transport protein 2C, a protein involved in maintenance of inorganic phosphate concentration in the kidney. The condition is characterized by elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations, resulting in increased intestinal calcium absorption and hypercalciuria. This form of hypophosphatemic rickets is also distinguished by the lack of elevated fibroblast growth factor 23 (FGF23) concentrations. An autosomal recessive form of hypophosphatemic rickets caused by inactivating mutation(s) in the SLC34A3 gene, encoding sodium-dependent phosphate transport protein 2C, a protein involved in maintenance of inorganic phosphate concentration in the kidney. The condition is characterized by elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations, resulting in increased intestinal calcium absorption and hypercalciuria. This form of hypophosphatemic rickets is also distinguished by the lack of elevated fibroblast growth factor 23 (FGF23) concentrations. C26878 Rickets C90259 NICHD Terminology C131451 Familial Glucocorticoid Deficiency Type 3 Familial Glucocorticoid Deficiency Type 3 GCCD3 || Non-classic CLAH (FGD variant) A variant of familial glucocorticoid deficiency caused by a defect in the steroidogenic acute regulatory protein; it may mimic lipoid congenital adrenal hyperplasia. A variant of familial glucocorticoid deficiency caused by a defect in the steroidogenic acute regulatory protein; it may mimic lipoid congenital adrenal hyperplasia. C120446 Isolated Glucocorticoid Deficiency C90259 NICHD Terminology C131452 Familial Glucocorticoid Deficiency Type 4 Familial Glucocorticoid Deficiency Type 4 GCCD4 Familial glucocorticoid deficiency caused by mutation(s) in the NNT gene encoding nicotinamide nucleotide transhydrogenase. Familial glucocorticoid deficiency caused by mutation(s) in the NNT gene encoding nicotinamide nucleotide transhydrogenase. C120446 Isolated Glucocorticoid Deficiency C90259 NICHD Terminology C131500 Recurrent Primary Malignant Neoplasm Recurrent Primary Malignancy The reemergence of a primary malignant neoplasm after a period of remission. The return of an original malignancy after a period of remission. C38155 Recurrent Disease C90259 NICHD Terminology C131501 Recurrent Subsequent Malignant Neoplasm Recurrent Subsequent Malignancy Recurrent Secondary Malignancy The reemergence of a malignant neoplasm other than the original one, after a period of remission. The return of a malignancy, other than the original one, after a period of remission. C38155 Recurrent Disease C90259 NICHD Terminology C131502 Acute Myeloid Leukemia with t(5;11)(q35;p15); NUP98-NSD1 Acute Myeloid Leukemia with t(5;11)(q35;p15); NUP98-NSD1 AML with t(5;11)(q35;p15); NUP98-NSD1 Acute myeloid leukemia with often cytogenetically cryptic fusion of NUP98 (chromosome 11p15) with NSD1 (chromosome 5q35). This alteration occurs in 4% of pediatric AML cases. Acute myeloid leukemia (AML) with often cytogenetically cryptic fusion of NUP98 (chromosome 11p15) with NSD1 (chromosome 5q35). This alteration occurs in 4% of pediatric AML cases. C122691 Childhood Acute Myeloid Leukemia with NUP98 Rearrangement C90259 NICHD Terminology C131504 Acute Myeloid Leukemia with t(11;15)(p15;q35); NUP98-JARID1A Acute Myeloid Leukemia with t(11;15)(p15;q35); NUP98-JARID1A AML with t(11;15)(p15;q35); NUP98-JARID1A Acute myeloid leukemia with a cytogenetically cryptic fusion of NUP98 to JARID1A, t(11;15)(p15;q35). It typically has a megakaryocytic phenotype and occurs in 10% of pediatric, non-Down syndrome-related acute megakaryoblastic leukemia cases. Acute myeloid leukemia (AML) with a cytogenetically, cryptic fusion of NUP98 to JARID1A, t(11;15)(p15;q35). It typically has an megakaryocytic phenotype and occurs in 10% of pediatric, non-Down Syndrome-related acute megakaryoblastic leukemia (AMKL) cases. C122691 Childhood Acute Myeloid Leukemia with NUP98 Rearrangement C90259 NICHD Terminology C131506 Childhood Melanoma Childhood Melanoma A melanoma that occurs during childhood. A melanoma that occurs during childhood. C3224 Melanoma C90259 NICHD Terminology C131621 Acquired Factor I Deficiency Acquired Factor I Deficiency An acquired coagulation disorder characterized by the partial or complete absence of fibrinogen (factor I) activity in the blood. An acquired coagulation disorder characterized by the partial or complete absence of fibrinogen (factor I) activity in the blood. C26692 Factor I Deficiency C34347 Acquired Coagulation Factor Deficiency C90259 NICHD Terminology C131622 Acquired Factor II Deficiency Acquired Factor II Deficiency An acquired coagulation disorder characterized by the partial or complete absence of prothrombin (factor II) activity in the blood. An acquired coagulation disorder characterized by the partial or complete absence of prothrombin (factor II) activity in the blood. C26799 Hereditary Factor II Deficiency C34347 Acquired Coagulation Factor Deficiency C90259 NICHD Terminology C131623 Acquired Factor III Deficiency Acquired Factor III Deficiency Acquired Tissue Factor Deficiency An acquired coagulation disorder characterized by the partial or complete absence of tissue factor (factor III) activity in the blood. An acquired coagulation disorder characterized by the partial or complete absence of tissue factor (factor III) activity in the blood. C131635 Tissue Factor Deficiency C34347 Acquired Coagulation Factor Deficiency C90259 NICHD Terminology C131624 Acquired Factor V Deficiency Acquired Factor V Deficiency An acquired coagulation disorder characterized by the partial or complete absence of factor V activity in the blood. An acquired coagulation disorder characterized by the partial or complete absence of factor V activity in the blood. C98938 Hereditary Factor V Deficiency C34347 Acquired Coagulation Factor Deficiency C90259 NICHD Terminology C131625 Acquired Factor VII Deficiency Acquired Factor VII Deficiency An acquired coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood. An acquired coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood. C131631 Factor VII Deficiency C34347 Acquired Coagulation Factor Deficiency C90259 NICHD Terminology C131626 Acquired Factor X Deficiency Acquired Factor X Deficiency An acquired coagulation disorder characterized by the partial or complete absence of factor X activity in the blood. An acquired coagulation disorder characterized by the partial or complete absence of factor X activity in the blood. C131632 Factor X Deficiency C34347 Acquired Coagulation Factor Deficiency C90259 NICHD Terminology C131627 Acquired Factor XI Deficiency Acquired Factor XI Deficiency An acquired coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood. An acquired coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood. C84705 Hereditary Factor XI Deficiency Disease C34347 Acquired Coagulation Factor Deficiency C90259 NICHD Terminology C131628 Acquired Factor XII Deficiency Acquired Factor XII Deficiency An acquired coagulation disorder characterized by the partial or complete absence of factor XII activity in the blood. An acquired coagulation disorder characterized by the partial or complete absence of factor XII activity in the blood. C26770 Hereditary Factor XII Deficiency C34347 Acquired Coagulation Factor Deficiency C90259 NICHD Terminology C131629 Acquired Factor XIII Deficiency Acquired Factor XIII Deficiency An acquired coagulation disorder characterized by the partial or complete absence of factor XIII activity in the blood. An acquired coagulation disorder characterized by the partial or complete absence of factor XIII activity in the blood. C131633 Factor XIII Deficiency C34347 Acquired Coagulation Factor Deficiency C90259 NICHD Terminology C131630 Anemia due to Erythrocyte Enzyme Disorder Anemia due to Erythrocyte Enzyme Disorder Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis. Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis. C35472 Anemia due to Enzyme Disorder C90259 NICHD Terminology C131631 Factor VII Deficiency Factor VII Deficiency A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood. A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood. C27215 Coagulation Factor Deficiency C90259 NICHD Terminology C131632 Factor X Deficiency Factor X Deficiency A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood. A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood. C27215 Coagulation Factor Deficiency C90259 NICHD Terminology C131633 Factor XIII Deficiency Factor XIII Deficiency A coagulation disorder characterized by the partial or complete absence of factor XIII activity in the blood. A coagulation disorder characterized by the partial or complete absence of factor XIII activity in the blood. C27215 Coagulation Factor Deficiency C90259 NICHD Terminology C131634 Platelet Disorder Platelet Abnormality A disorder of platelet function or platelet production that may cause increased bleeding. A disorder of platelet function or platelet production that may cause increased bleeding. C26323 Hematologic Disorder C90259 NICHD Terminology C131635 Tissue Factor Deficiency Tissue Factor Deficiency Factor III Deficiency A coagulation disorder characterized by the partial or complete absence of tissue factor (factor III) activity in the blood. A coagulation disorder characterized by the partial or complete absence of tissue factor (factor III) activity in the blood. C27215 Coagulation Factor Deficiency C90259 NICHD Terminology C131638 Bisphosphoglycerate Mutase Deficiency Bisphosphoglycerate Mutase Deficiency Diphosphoglycerate Phosphatase Deficiency A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly. A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly. C131630 Anemia due to Erythrocyte Enzyme Disorder C90259 NICHD Terminology C131639 Epstein Syndrome Epstein Syndrome An autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and deafness; it is associated with mutation of the MYH9 gene. An autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and deafness; it is associated with mutation of the MYH9 gene. C131634 Platelet Abnormality C28193 Syndrome C90259 NICHD Terminology C131640 Erythrocyte Adenylate Kinase Deficiency Erythrocyte Adenylate Kinase Deficiency Red Cell Adenylate Kinase Deficiency An autosomal recessive disorder caused by mutation of the AK1 gene. It is associated with moderate to severe non-spherocytic hemolytic anemia and, in some cases, with intellectual disability and psychomotor impairment. An autosomal recessive disorder caused by mutation of the AK1 gene. It is associated with moderate to severe non-spherocytic hemolytic anemia and, in some cases, with intellectual disability and psychomotor impairment. C131630 Anemia due to Erythrocyte Enzyme Disorder C90259 NICHD Terminology C131641 Erythrocyte Enolase Deficiency Erythrocyte Enolase Deficiency Alpha-Enolase Deficiency || Phosphopyruvate Hydratase Deficiency A rare, autosomal dominant, inherited disorder caused by mutation of the ENO1 gene. It is associated with spherocytic hemolytic anemia, exercise-induced myalgia and weakness. A rare, autosomal dominant, inherited disorder caused by mutation of the ENO1 gene. It is associated with spherocytic hemolytic anemia, exercise-induced myalgia and weakness. C131630 Anemia due to Erythrocyte Enzyme Disorder C90259 NICHD Terminology C131642 Fechtner Syndrome Fechtner Syndrome An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, with the additional features of nephritis, hearing loss, and eye abnormalities, mostly cataracts; it is associated with mutation of the MYH9 gene. An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, with the additional features of nephritis, hearing loss, and eye abnormalities, mostly cataracts; it is associated with mutation of the MYH9 gene. C131634 Platelet Abnormality C28193 Syndrome C90259 NICHD Terminology C131643 Glucose Phosphate Isomerase Deficiency Glucose Phosphate Isomerase Deficiency Glucose-6-Phosphate Isomerase Deficiency A rare, autosomal recessive, inherited disorder caused by mutation of the GPI gene. It is characterized by chronic, non-spherocytic hemolytic anemia. A rare, autosomal recessive, inherited disorder caused by mutation of the GPI gene. It is characterized by chronic, non-spherocytic hemolytic anemia. C131630 Anemia due to Erythrocyte Enzyme Disorder C90259 NICHD Terminology C131644 Hereditary Factor III Deficiency Hereditary Factor III Deficiency Hereditary Tissue Factor Deficiency An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of tissue factor (factor III) activity in the blood. An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of tissue factor (factor III) activity in the blood. C98942 Hereditary Coagulation Factor Deficiency C131635 Tissue Factor Deficiency C90259 NICHD Terminology C131645 Hexokinase Deficiency Hexokinase Deficiency Erythrocyte Hexokinase Deficiency || HK1 Deficiency A rare, autosomal recessive, inherited disorder caused by mutation of the HK1 gene. It is characterized by the early-onset of severe, non-spherocytic hemolytic anemia. A rare, autosomal recessive, inherited disorder caused by mutation of the HK1 gene. It is characterized by the early-onset of severe, non-spherocytic hemolytic anemia. C131630 Anemia due to Erythrocyte Enzyme Disorder C90259 NICHD Terminology C131646 May-Hegglin Anomaly May-Hegglin Anomaly An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes. It is characterized by varying degrees of thrombocytopenia that may be associated with purpura and bleeding; it is associated with mutation of the MYH9 gene. An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes. It is characterized by varying degrees of thrombocytopenia that may be associated with purpura and bleeding; it is associated with mutation of the MYH9 gene. C131634 Platelet Abnormality C90259 NICHD Terminology C131647 Phosphoglycerate Mutase Deficiency Phosphoglycerate Mutase Deficiency Glycogen Storage Disease X A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy. A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy. C131630 Anemia due to Erythrocyte Enzyme Disorder C90259 NICHD Terminology C131648 Plasma Kallikrein Deficiency Plasma Kallikrein Deficiency A coagulation disorder characterized by the partial or complete absence of plasma-type kallikrein activity in the blood. A coagulation disorder characterized by the partial or complete absence of plasma-type kallikrein activity in the blood. C2902 Coagulation Disorder C90259 NICHD Terminology C131649 Pyrimidine-5'-Nucleotidase Deficiency Pyrimidine-5'-Nucleotidase Deficiency An autosomal recessive disorder caused by mutation of the NT5C3A gene. It is the most frequent abnormality of red cell nucleotide metabolism, causing chronic, non-spherocytic hemolytic anemia. Most affected individuals have Mediterranean, Jewish, or African ancestry. Basophilic stippling and accumulation of pyrimidines within erythrocytes are hallmarks of this disorder. An autosomal recessive disorder caused by mutation of the NT5C3A gene. It is the most frequent abnormality of red cell nucleotide metabolism, causing chronic, non-spherocytic hemolytic anemia. Most affected individuals have Mediterranean, Jewish, or African ancestry. Basophilic stippling and accumulation of pyrimidines within erythrocytes are hallmarks of this disorder. C35469 Anemia due to Disorder of Nucleotide Metabolism C131630 Anemia due to Erythrocyte Enzyme Disorder C90259 NICHD Terminology C131650 Sebastian Syndrome Sebastian Syndrome Sebastian Platelet Syndrome An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, without other organ dysfunction; it is associated with mutation of the MYH9 gene. An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, without other organ dysfunction; it is associated with mutation of the MYH9 gene. C131634 Platelet Abnormality C28193 Syndrome C90259 NICHD Terminology C131651 Tissue Kallikrein Deficiency Tissue Kallikrein Deficiency A disorder characterized by the partial or complete absence of tissue-type kallikrein activity in the tissues and glandular secretions where it is normally present. A disorder characterized by the partial or complete absence of tissue-type kallikrein activity in the tissues and glandular secretions where it is normally present. C2902 Coagulation Disorder C90259 NICHD Terminology C131652 Triosephosphate Isomerase Deficiency Triosephosphate Isomerase Deficiency A rare, autosomal recessive, inherited disorder caused by mutation of the TPI1 gene. It is characterized by hemolytic anemia and severe, progressive neuromuscular dysfunction beginning in early childhood. A rare, autosomal recessive, inherited disorder caused by mutation of the TPI1 gene. It is characterized by hemolytic anemia and severe, progressive neuromuscular dysfunction beginning in early childhood. C131630 Anemia due to Erythrocyte Enzyme Disorder C90259 NICHD Terminology C131653 Acquired Thrombotic Thrombocytopenic Purpura Acquired Thrombotic Thrombocytopenic Purpura Acquired ADAMTS13 Deficiency || Acquired TTP Thrombotic thrombocytopenic purpura for which the cause is not present at birth. Thrombotic thrombocytopenic purpura for which the cause is not present at birth. C78797 Thrombotic Thrombocytopenic Purpura C90259 NICHD Terminology C131654 Alpha-Beta T-Cell Depletion Alpha-Beta T-Cell Depletion Restriction of the T-cell population in stem cell transplants to those expressing only the gamma-delta receptor. Alpha-beta receptors are expressed on the majority of peripheral blood T-cells and are the primary mediators of graft versus host disease. Restriction of the T-cell population in stem cell transplants to those expressing only the gamma-delta receptor. Alpha-beta receptors are expressed on the majority of peripheral blood T-cells and are the primary mediators of graft versus host disease. C15699 T-Cell Depletion C90259 NICHD Terminology C131655 Anemia due to Decreased Production Anemia due to Decreased Production Anemia that results from a decreased rate of erythropoiesis. Anemia that results from a decreased rate of erythropoiesis. C2869 Anemia C90259 NICHD Terminology C131656 Anemia due to Increased Destruction Anemia due to Increased Destruction Anemia that results from an increased rate of erythrocyte destruction. Anemia that results from an increased rate of erythrocyte destruction. C2869 Anemia C90259 NICHD Terminology C131657 Congenital Thrombotic Thrombocytopenic Purpura Congenital Thrombotic Thrombocytopenic Purpura Congenital ADAMTS13 Deficiency || Congenital TTP Thrombotic thrombocytopenic purpura for which the cause is present from birth. Thrombotic thrombocytopenic purpura for which the cause is present from birth. C78797 Thrombotic Thrombocytopenic Purpura C90259 NICHD Terminology C131658 Consumptive Coagulopathy Consumptive Coagulopathy Consumption Coagulopathy Disorders of coagulation caused by the depletion of coagulation factors in the peripheral blood. Disorders of coagulation caused by the depletion of coagulation factors in the peripheral blood. C2902 Coagulation Disorder C90259 NICHD Terminology C131659 Dysfibrinogenemia Dysfibrinogenemia A coagulation disorder caused by abnormalities in fibrin that result in defective clot formation. This disorder may be inherited or acquired. A coagulation disorder caused by abnormalities in fibrin that result in defective clot formation. This disorder may be inherited or acquired. C2902 Coagulation Disorder C90259 NICHD Terminology C131660 Factor I Inactivation Factor I Inactivation Factor I Inhibitor Present Presence of inactivating antibodies to fibrinogen (factor I) in the blood. Presence of inactivating antibodies to fibrinogen (factor I) in the blood. C131621 Acquired Factor I Deficiency C90259 NICHD Terminology C131661 Factor II Inactivation Factor II Inactivation Factor II Inhibitor Present Presence of inactivating antibodies to prothrombin (factor II) in the blood. Presence of inactivating antibodies to prothrombin (factor II) in the blood. C131622 Acquired Factor II Deficiency C90259 NICHD Terminology C131662 Factor III Inactivation Factor III Inactivation Factor III Inhibitor Present || Tissue Factor Inhibitor Present Presence of inactivating antibodies to tissue factor (factor III) in the blood. Presence of inactivating antibodies to tissue factor (factor III) in the blood. C131623 Acquired Factor III Deficiency C90259 NICHD Terminology C131663 Factor IX Inactivation Factor IX Inactivation Factor IX Inhibitor Present Presence of inactivating antibodies to factor IX in the blood. Presence of inactivating antibodies to factor IX in the blood. C35440 Acquired Factor IX Deficiency C90259 NICHD Terminology C131664 Factor V Inactivation Factor V Inactivation Factor V Inhibitor Present Presence of inactivating antibodies to factor V in the blood. Presence of inactivating antibodies to factor V in the blood. C131624 Acquired Factor V Deficiency C90259 NICHD Terminology C131665 Factor VII Inactivation Factor VII Inactivation Factor VII Inhibitor Present Presence of inactivating antibodies to factor VII in the blood. Presence of inactivating antibodies to factor VII in the blood. C131625 Acquired Factor VII Deficiency C90259 NICHD Terminology C131666 Factor VIII Inactivation Factor VIII Inactivation Factor VIII Inhibitor Present Presence of inactivating antibodies to factor VIII in the blood. Presence of inactivating antibodies to factor VIII in the blood. C35345 Acquired Factor VIII Deficiency C90259 NICHD Terminology C131667 Factor X Inactivation Factor X Inactivation Factor X Inhibitor Present Presence of inactivating antibodies to factor X in the blood. Presence of inactivating antibodies to factor X in the blood. C131626 Acquired Factor X Deficiency C90259 NICHD Terminology C131668 Factor XI Inactivation Factor XI Inactivation Factor XI Inhibitor Present Presence of inactivating antibodies to factor XI in the blood. Presence of inactivating antibodies to factor XI in the blood. C131627 Acquired Factor XI Deficiency C90259 NICHD Terminology C131669 Factor XII Inactivation Factor XII Inactivation Factor XII Inhibitor Present Presence of inactivating antibodies to factor XII in the blood. Presence of inactivating antibodies to factor XII in the blood. C131628 Acquired Factor XII Deficiency C90259 NICHD Terminology C131670 Factor XIII Inactivation Factor XIII Inactivation Factor XIII Inhibitor Present Presence of inactivating antibodies to factor XIII in the blood. Presence of inactivating antibodies to factor XIII in the blood. C131629 Acquired Factor XIII Deficiency C90259 NICHD Terminology C131671 Gamma-Delta T-Cell Depletion Gamma-Delta T-Cell Depletion Restriction of the T-cell population in stem cell transplants to those expressing only the alpha-beta receptor. Restriction of the T-cell population in stem cell transplants to those expressing only the alpha-beta receptor. C15699 T-Cell Depletion C90259 NICHD Terminology C131672 Gross Total Resection Gross Total Resection Surgical removal of an entire visible lesion, with no obvious lesion detected on post-operative evaluation; microscopic residual disease may be present. Surgical removal of an entire visible lesion, with no obvious lesion detected on post-operative evaluation; microscopic residual disease may be present. C15329 Surgical Procedure C90259 NICHD Terminology C131673 Immune-Mediated Coagulopathy Immune-Mediated Coagulopathy IMC || Immune-Mediated Coagulation Disorder Disorders of coagulation caused by autoantibodies generated against native coagulation factors or therapeutically-administered hemostatic agents. Disorders of coagulation caused by autoantibodies generated against native coagulation factors or therapeutically-administered hemostatic agents. C2902 Coagulation Disorder C90259 NICHD Terminology C131674 Infantile Pyknocytosis Infantile Pyknocytosis Hereditary Pyknocytosis A rare, neonatal syndrome characterized by early jaundice that becomes rapidly associated with severe hemolytic anemia. The peripheral blood smear is remarkable for small irregular, contracted red blood cells with hyper-dense spikes (pyknocytes), that progressively increase in number and then spontaneously disappear. A rare, neonatal syndrome characterized by early jaundice that becomes rapidly associated with severe hemolytic anemia. The peripheral blood smear is remarkable for small irregular, contracted red blood cells with hyper-dense spikes (pyknocytes), that progressively increase in number and then spontaneously disappear. C101218 Hemolytic Anemia due to Erythrocyte Membrane Defect C90259 NICHD Terminology C131675 Matched Related Donor Matched Related Donor A donor who is related to the transplant recipient, and who is a human leukocyte antigen (HLA) tissue type match. A donor who is related to the transplant recipient, and who is a human leukocyte antigen (HLA) tissue type match. C25190 Person C90259 NICHD Terminology C131676 Matched Unrelated Donor Matched Unrelated Donor MUD || Matched Non-Related Donor A donor who is not related to the transplant recipient, but who is a human leukocyte antigen (HLA) tissue type match. A donor who is not related to the transplant recipient, but who is a human leukocyte antigen (HLA) tissue type match. C25190 Person C90259 NICHD Terminology C131677 Megaloblastic Anemia 1 Megaloblastic Anemia 1 Imerslund-Gräsbeck Syndrome || Juvenile Megaloblastic Anemia || MGA-1 An autosomal recessive disorder caused by mutations in the CUBN or AMN genes. It is characterized by vitamin B12 deficiency due to selective malabsorption of the vitamin, and usually results in megaloblastic anemia appearing in childhood (but not immediately after birth). An autosomal recessive disorder caused by mutations in the CUBN or AMN genes. It is characterized by vitamin B12 deficiency due to selective malabsorption of the vitamin, and usually results in megaloblastic anemia appearing in childhood (but not immediately after birth). C34382 Megaloblastic Anemia C90259 NICHD Terminology C131678 Mismatched Unrelated Donor Mismatched Unrelated Donor MMUD || Mismatched Non-Related Donor, Mismatched Donor A donor who is not related to the transplant recipient, and who is not a human leukocyte antigen (HLA) tissue type match at one or more of the following loci: HLA-A, HLA-B, HLA-C, and HLA-DRB1. A donor who is not related to the transplant recipient, and who is not a human leukocyte antigen (HLA) tissue type match at one or more of the following loci: HLA-A, HLA-B, HLA-C, and HLA-DRB1. C25190 Person C90259 NICHD Terminology C131679 Myeloablative Conditioning Myeloablative Conditioning Myeloablation || Myeloablative Cytoreduction A conditioning regimen with high doses of chemotherapy or radiation to eliminate host hematopoietic stem cells prior to restitution via transplantation. A conditioning regimen with high doses of chemotherapy or radiation to eliminate host hematopoietic stem cells prior to restitution via transplantation. C49236 Therapeutic Procedure C90259 NICHD Terminology C131680 Partial Resection Partial Resection Incomplete Resection || Subtotal Resection Surgical removal of a part of a lesion; some portion of the lesion is detectable on post-operative evaluation. Surgical removal of a part of a lesion; some portion of the lesion is detectable on post-operative evaluation. C15329 Surgical Procedure C90259 NICHD Terminology C131681 Platelet-Type von Willebrand Disease Platelet-Type von Willebrand Disease Pseudo-von Willebrand Disease A rare autosomal dominant bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor (VWF) by the platelet glycoprotein Ib receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation. It is due to a mutation in the gene encoding for platelet glycoprotein Ib alpha, resulting in enhanced affinity for VWF. It is often misdiagnosed as type 2B von Willebrand disease due to similarities between these two conditions. Patients present with a mild thrombocytopenia with large platelets. Platelet aggregates are often visible in blood smears. A rare autosomal dominant bleeding disorder characterized by abnormally enhanced binding of von Willebrand factor (VWF) by the platelet glycoprotein Ib receptor complex. Hemostatic function is impaired due to the removal of VWF multimers from the circulation. It is due to a mutation in the gene encoding for platelet glycoprotein Ib alpha, resulting in enhanced affinity for VWF. It is often misdiagnosed as type 2B von Willebrand disease due to similarities between these two conditions. Patients present with a mild thrombocytopenia with large platelets. Platelet aggregates are often visible in blood smears. C68677 von Willebrand Disease C90259 NICHD Terminology C131682 Sickle Cell-SS Disease Sickle Cell-SS Disease Hemoglobin SS Disease || Sickle Cell (SS only) A variant of sickle cell disease due to homozygosity of the E6V mutation, amino acid substitution of valine for glutamic acid in the sixth position of the beta chain, resulting in the production of hemoglobin S from both alleles. A variant of sickle cell disease due to homozygosity of the E6V mutation, amino acid substitution of valine for glutamic acid in the sixth position of the beta chain, resulting in the production of hemoglobin S from both alleles. C34383 Sickle Cell Disease C90259 NICHD Terminology C131683 Transient Erythroblastopenia of Childhood Transient Erythroblastopenia of Childhood TEC An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy. An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy. C70548 Acquired Pure Red Cell Aplasia C90259 NICHD Terminology C131684 Vitamin B12 Deficiency Vitamin B12 Deficiency Hypocobalaminemia Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement. Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement. C35772 Vitamin Deficiency Disorder C90259 NICHD Terminology C131685 von Willebrand Disease, Type 1 von Willebrand Disease, Type 1 An autosomally inherited (generally dominant) coagulation disorder characterized by quantitative partial deficiency of circulating von Willebrand factor (VWF) which account for 60 to 80% of cases of von Willebrand disease. It is characterized by mild to moderate quantitative deficiencies of VWF and factor VIII, which are coordinately reduced from normal plasma levels. An autosomally inherited (generally dominant) coagulation disorder characterized by quantitative partial deficiency of circulating von Willebrand factor (VWF) which account for 60 to 80% of cases of von Willebrand disease. It is characterized by mild to moderate quantitative deficiencies of VWF and factor VIII, which are coordinately reduced from normal plasma levels. C68677 von Willebrand Disease C90259 NICHD Terminology C131686 von Willebrand Disease, Type 2A von Willebrand Disease, Type 2A An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF causes decreased platelet adhesion due to a selective deficiency of high molecular weight multimers. The decrease in large multimers can be due to a failure to synthesize the multimers ('group 1') or enhanced ADAMTS13-mediated proteolysis of the secreted high molecular weight protein ('group 2'). An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF causes decreased platelet adhesion due to a selective deficiency of high molecular weight multimers. The decrease in large multimers can be due to a failure to synthesize the multimers ('group 1') or enhanced ADAMTS13-mediated proteolysis of the secreted high molecular weight protein ('group 2'). C68677 von Willebrand Disease C90259 NICHD Terminology C131687 von Willebrand Disease, Type 2B von Willebrand Disease, Type 2B An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF shows increased affinity to platelet glycoprotein Ib alpha, resulting in increased platelet aggregation, and increased proteolysis of VWF subunits causing a decrease of large VWF multimers; patients often have secondary thrombocytopenia due to platelet consumption. An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF shows increased affinity to platelet glycoprotein Ib alpha, resulting in increased platelet aggregation, and increased proteolysis of VWF subunits causing a decrease of large VWF multimers; patients often have secondary thrombocytopenia due to platelet consumption. C68677 von Willebrand Disease C90259 NICHD Terminology C131688 von Willebrand Disease, Type 2M von Willebrand Disease, Type 2M An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF shows decreased platelet adhesion without a deficiency of high molecular weight multimers; this functional defect is caused by mutations that disrupt VWF binding to platelets or to subendothelium. An autosomally inherited (generally dominant) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF shows decreased platelet adhesion without a deficiency of high molecular weight multimers; this functional defect is caused by mutations that disrupt VWF binding to platelets or to subendothelium. C68677 von Willebrand Disease C90259 NICHD Terminology C131689 von Willebrand Disease, Type 2N von Willebrand Disease, Type 2N von Willebrand Disease Normandy Variant An autosomally inherited (generally recessive) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF shows markedly decreased binding affinity for factor VIII, which can be confused with mild hemophilia A. The phenotype is characterized by a disproportionate decrease in factor VIII compared to VWF. An autosomally inherited (generally recessive) coagulation disorder characterized by qualitative abnormalities of the von Willebrand factor (VWF). The mutant VWF shows markedly decreased binding affinity for factor VIII, which can be confused with mild hemophilia A. The phenotype is characterized by a disproportionate decrease in factor VIII compared to VWF. C68677 von Willebrand Disease C90259 NICHD Terminology C131737 Factor II Deficiency Factor II Deficiency A coagulation disorder characterized by the partial or complete absence of prothrombin (factor II) activity in the blood. A coagulation disorder characterized by the partial or complete absence of prothrombin (factor II) activity in the blood. C27215 Coagulation Factor Deficiency C90259 NICHD Terminology C131738 Factor V Deficiency Factor V Deficiency A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood. A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood. C27215 Coagulation Factor Deficiency C90259 NICHD Terminology C131739 Factor XI Deficiency Factor XI Deficiency A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood. A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood. C27215 Coagulation Factor Deficiency C90259 NICHD Terminology C131740 Factor XII Deficiency Factor XII Deficiency A coagulation disorder characterized by the partial or complete absence of factor XII activity in the blood. It is not associated with increased bleeding risk. A coagulation disorder characterized by the partial or complete absence of factor XII activity in the blood. It is not associated with increased bleeding risk. C27215 Coagulation Factor Deficiency C90259 NICHD Terminology C131811 Eiken Type Chondrodysplasia Eiken Type Chondrodysplasia An autosomal recessive skeletal dysplasia caused by mutation(s) in the PTH1R gene, encoding parathyroid hormone/parathyroid hormone-related peptide receptor. This condition is characterized by severely delayed skeletal maturation, as well as by abnormal modeling of the bones in the hands and feet, abnormal persistence of cartilage in the pelvis, and mild growth retardation. Calcium and phosphate concentrations are normal. An autosomal recessive skeletal dysplasia caused by mutation(s) in the PTH1R gene, encoding parathyroid hormone/parathyroid hormone-related peptide receptor. This condition is characterized by severely delayed skeletal maturation, as well as by abnormal modeling of the bones in the hands and feet, abnormal persistence of cartilage in the pelvis, and mild growth retardation. Calcium and phosphate concentrations are normal. C3101 Genetic Disorder C90259 NICHD Terminology C131812 Endosteal Hyperostosis Endosteal Hyperostosis van Buchem Disease || van Buchem Disease Type 1 An autosomal recessive form of craniotubular hyperostosis due to a 52-kb deletion in the SOST gene, encoding sclerostin. Clinical features include normal stature, enlarged jaw and facial bones, hearing loss, and facial palsy due to cranial nerve deficits. The absence of syndactyly distinguishes this condition from sclerosteosis. An autosomal recessive form of craniotubular hyperostosis due to a 52-kb deletion in the SOST gene, encoding sclerostin. Clinical features include normal stature, enlarged jaw and facial bones, hearing loss, and facial palsy due to cranial nerve deficits. The absence of syndactyly distinguishes this condition from sclerosteosis. C3101 Genetic Disorder C90259 NICHD Terminology C131813 Familial Dysalbuminemic Hyperthyroidism Familial Dysalbuminemic Hyperthyroxinemia Familial Dysalbuminemic Hyperthyroidism A genetic condition caused by a variant in the ALB gene, associated with increased affinity of albumin for thyroxine. A genetic condition caused by a variant in the ALB gene, associated with increased affinity of albumin for thyroxine. C3123 Hyperthyroidism C90259 NICHD Terminology C131814 Focal Lipodystrophy Focal Lipodystrophy Localized Lipodystrophy Loss of subcutaneous fat confined to small area(s) of the body. Loss of subcutaneous fat confined to small area(s) of the body. C97093 Lipodystrophy C90259 NICHD Terminology C131815 Generalized Lipodystrophy Generalized Lipodystrophy Almost complete absence of subcutaneous and/or visceral adipose tissue. Almost complete absence of subcutaneous and/or visceral adipose tissue. C97093 Lipodystrophy C90259 NICHD Terminology C131816 Generalized Thyroid Hormone Resistance Generalized Thyroid Hormone Resistance GTHR Decreased response to thyroid hormones in peripheral tissues and in the pituitary gland. Decreased response to thyroid hormones in peripheral tissues and in the pituitary gland. C36285 Endocrine System Finding C90259 NICHD Terminology C131817 Glucagon Deficiency Glucagon Deficiency Impaired pancreatic secretion of glucagon that results in severely low blood glucose. Impaired pancreatic secretion of glucagon that results in severely low blood glucose. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C131818 Iatrogenic Central Hypothyroidism Iatrogenic Central Hypothyroidism Central hypothyroidism due to medical or surgical treatment. Central hypothyroidism due to medical or surgical treatment. C26800 Hypothyroidism C90259 NICHD Terminology C131819 Iatrogenic Primary Hypothyroidism Iatrogenic Primary Hypothyroidism Primary hypothyroidism due to medical or surgical treatment. Primary hypothyroidism due to medical or surgical treatment. C26800 Hypothyroidism C90259 NICHD Terminology C131820 Hypothyroxinemia Hypothyroxinemia Decreased concentration of thyroxine. Decreased concentration of thyroxine. C36285 Endocrine System Finding C90259 NICHD Terminology C131830 Focal KATP-Associated Hyperinsulinism Focal KATP-Associated Hyperinsulinism KATP-associated hyperinsulinism in which there is an area of adenomatous beta-cell hyperplasia. This condition results from paternal recessive mutation(s) in either the ABCC8 or the KCNJ11 gene and paternal uniparental isodisomy of chromosome region 11p15 with loss of tumor suppressor genes expressed from the maternally inherited chromosome. KATP-associated hyperinsulinism in which there is an area of adenomatous beta-cell hyperplasia. This condition results from paternal recessive mutation(s) in either the ABCC8 or the KCNJ11 gene and paternal uniparental isodisomy of chromosome region 11p15 with loss of tumor suppressor genes expressed from the maternally inherited chromosome. C131840 Monogenic Hyperinsulinism C90259 NICHD Terminology C131831 Glucokinase-Associated Hyperinsulinism Glucokinase-Associated Hyperinsulinism GCK-Associated Hyperinsulinism Hyperinsulinism due to activating mutation(s) in the gene GCK, encoding glucokinase. Hyperinsulinism due to activating mutation(s) in the gene GCK, encoding glucokinase. C131840 Monogenic Hyperinsulinism C90259 NICHD Terminology C131832 Glutamate Dehydrogenase 1 Hyperinsulinism Glutamate Dehydrogenase 1 Hyperinsulinism GDH Hyperinsulinism || GLUD1 Hyperinsulinism || Hyperinsulinism/Hyperammonemia Syndrome Hyperinsulinism due to activating mutation(s) in the GLUD1 gene, encoding glutamate dehydrogenase 1. This condition is characterized by protein induced hypoglycemia and hyperammonemia, which is presumed to be due to increased ammonia production in the kidney. Hyperinsulinism due to activating mutation(s) in the GLUD1 gene, encoding glutamate dehydrogenase 1. This condition is characterized by protein induced hypoglycemia and hyperammonemia, which is presumed to be due to increased ammonia production in the kidney. C131840 Monogenic Hyperinsulinism C90259 NICHD Terminology C131833 Hepatocyte Nuclear Factor 1-Alpha Hyperinsulinism Hepatocyte Nuclear Factor 1-Alpha Hyperinsulinism HNF1A-Associated Hyperinsulinism Hyperinsulinism due to mutation(s) in the gene HNF1A, encoding the transcription factor hepatocyte nuclear factor 1-alpha. This condition may progress to diabetes later in life. Hyperinsulinism due to mutation(s) in the gene HNF1A, encoding the transcription factor hepatocyte nuclear factor 1-alpha. This condition may progress to diabetes later in life. C131840 Monogenic Hyperinsulinism C90259 NICHD Terminology C131834 Hepatocyte Nuclear Factor 4-Alpha Hyperinsulinism Hepatocyte Nuclear Factor 4-Alpha Hyperinsulinism HNF4A-Associated Hyperinsulinism Hyperinsulinism due to mutation(s) in the gene HNF4A, encoding the transcription factor hepatocyte nuclear factor 4-alpha. This condition may progress to diabetes later in life. Hyperinsulinism due to mutation(s) in the gene HNF4A, encoding the transcription factor hepatocyte nuclear factor 4-alpha. This condition may progress to diabetes later in life. C131840 Monogenic Hyperinsulinism C90259 NICHD Terminology C131835 Hyperinsulinism in the Infant of a Diabetic Mother Hyperinsulinism in the Infant of a Diabetic Mother Transient hypoglycemia that occurs in the infant of a diabetic mother due to increased postnatal insulin release as a result of in utero exposure to maternal hyperglycemia. Transient hypoglycemia that occurs in the infant of a diabetic mother due to increased postnatal insulin release as a result of in utero exposure to maternal hyperglycemia. C131425 Congenital Hyperinsulinism C90259 NICHD Terminology C131836 Insulin Resistant Diabetes Mellitus with Acanthosis Nigricans and Hyperandrogenism Insulin Resistant Diabetes Mellitus with Acanthosis Nigricans and Hyperandrogenism Type A Insulin Resistance Syndrome A syndrome of insulin resistance caused by mutation(s) in the INSR gene, encoding the insulin receptor. This condition is characterized by a clinical triad of hyperinsulinemia, acanthosis nigricans, and hyperandrogenism without lipodystrophy. This is the least severe of a spectrum of disorders; the other two conditions are Rabson-Mendenhall Syndrome and Donohoe Syndrome. A syndrome of insulin resistance caused by mutation(s) in the INSR gene, encoding the insulin receptor. This condition is characterized by a clinical triad of hyperinsulinemia, acanthosis nigricans, and hyperandrogenism without lipodystrophy. This is the least severe of a spectrum of disorders; the other two conditions are Rabson-Mendenhall Syndrome and Donohoe Syndrome. C2985 Diabetes Mellitus C90259 NICHD Terminology C131837 Mitochondrial Hydroxyacyl-Coenzyme A Dehydrogenase Hyperinsulinism Mitochondrial Hydroxyacyl-Coenzyme A Dehydrogenase Hyperinsulinism HADH-Associated Hyperinsulinism || SCHAD Hyperinsulinism Hyperinsulinism due to inactivating mutation(s) in the gene HADH, encoding mitochondrial (short-chain) hydroxyacyl-coenzyme A dehydrogenase, resulting in loss of inhibition of glutamate dehydrogenase (GDH). This condition is also characterized by protein-induced hypoglycemia, but in contrast to GLUD1-associated hyperinsulinism, hyperammonemia is absent. Hyperinsulinism due to inactivating mutation(s) in the gene HADH, encoding mitochondrial (short-chain) hydroxyacyl-coenzyme A dehydrogenase, resulting in loss of inhibition of glutamate dehydrogenase (GDH). This condition is also characterized by protein-induced hypoglycemia, but in contrast to GLUD1-associated hyperinsulinism, hyperammonemia is absent. C131840 Monogenic Hyperinsulinism C90259 NICHD Terminology C131838 Mitochondrial Uncoupling Protein 2 Hyperinsulinism Mitochondrial Uncoupling Protein 2 Hyperinsulinism UCP2 Hyperinsulinism Hyperinsulinism due to mutation(s) in the gene UCP2, encoding mitochondrial uncoupling protein 2, which plays a role in attenuating insulin secretion. Hyperinsulinism due to mutation(s) in the gene UCP2, encoding mitochondrial uncoupling protein 2, which plays a role in attenuating insulin secretion. C131840 Monogenic Hyperinsulinism C90259 NICHD Terminology C131839 Monocarboxylate Transporter 1 Hyperinsulinism Monocarboxylate Transporter 1 Hyperinsulinism Exercise-induced Hyperinsulinism || MCT1 Hyperinsulinism Hyperinsulinism due to mutation(s) in the regulatory region of the SLC16A1 gene, encoding monocarboxylate transporter 1 (MCT1). The mutation(s) result in aberrant expression of MCT1 in the beta cell, leading to inappropriate insulin secretion and hypoglycemia triggered by anaerobic exercise. Hyperinsulinism due to mutation(s) in the regulatory region of the SLC16A1 gene, encoding monocarboxylate transporter 1 (MCT1). The mutation(s) result in aberrant expression of MCT1 in the beta cell, leading to inappropriate insulin secretion and hypoglycemia triggered by anaerobic exercise. C131840 Monogenic Hyperinsulinism C90259 NICHD Terminology C131840 Monogenic Hyperinsulinism Monogenic Hyperinsulinism A genetically heterogenous group of hyperinsulinemic conditions caused by mutation(s) in one of the many genes involved in the regulation of insulin secretion. A genetically heterogenous group of hyperinsulinemic conditions caused by mutation(s) in one of the many genes involved in the regulation of insulin secretion. C3009 Endocrine System Disorder C90259 NICHD Terminology C131841 Obesity-Associated Insulin Resistance Obesity-Associated Insulin Resistance Insulin resistance associated with obesity, which may be attributed in part to impaired insulin signaling in target tissues, or impaired insulin-stimulated glucose transport due to reduced expression of the glucose transporter protein 4. Insulin resistance associated with obesity, which may be attributed in part to impaired insulin signaling in target tissues, or impaired insulin-stimulated glucose transport due to reduced expression of the glucose transporter protein 4. C131425 Congenital Hyperinsulinism C90259 NICHD Terminology C131842 KATP-Associated Hyperinsulinism KATP-Associated Hyperinsulinism Hyperinsulinism caused by non-functional beta-cell ATP-sensitive potassium channels due to inactivating mutation(s) in either the ABCC8 or KCNJ11 gene. Hyperinsulinism caused by non-functional beta-cell ATP-sensitive potassium channels due to inactivating mutation(s) in either the ABCC8 or KCNJ11 gene. C131840 Monogenic Hyperinsulinism C90259 NICHD Terminology C131843 Diffuse KATP-Associated Hyperinsulinism Diffuse KATP-Associated Hyperinsulinism KATP-associated hyperinsulinism affecting all pancreatic beta cells. KATP-associated hyperinsulinism affecting all pancreatic beta cells. C131840 Monogenic Hyperinsulinism C90259 NICHD Terminology C131845 K ATP Associated Developmental Delay, Epilepsy and Neonatal Diabetes K ATP Associated Developmental Delay, Epilepsy and Neonatal Diabetes DEND Syndrome A condition characterized by K ATP channel-associated permanent neonatal diabetes mellitus accompanied by neurological manifestations of developmental delay and epilepsy that may be associated with the severity of the mutation(s). A condition characterized by K ATP channel-associated permanent neonatal diabetes mellitus accompanied by neurological manifestations of developmental delay and epilepsy that may be associated with the severity of the mutation(s). C129739 Monogenic Diabetes C90259 NICHD Terminology C131846 K ATP Associated Transient Neonatal Diabetes Mellitus K ATP Associated Transient Neonatal Diabetes Mellitus TNDM K ATP channel-associated neonatal diabetes mellitus that resolves spontaneously. K ATP channel-associated neonatal diabetes mellitus that resolves spontaneously. C129739 Monogenic Diabetes C90259 NICHD Terminology C131847 K ATP Channel-Associated Diabetes Mellitus K ATP Channel-Associated Diabetes Mellitus Diabetes mellitus caused by activating mutation(s) in genes (KNCJ11 and/or ABCC8) encoding either of the 2 proteins (Kir6.2 and/or SUR1) that make up the pancreatic beta cell adenosine triphosphate-sensitive potassium channel, which is crucial for the regulation of glucose-induced insulin secretion. Diabetes mellitus caused by activating mutation(s) in genes (KNCJ11 and/or ABCC8) encoding either of the 2 proteins (Kir6.2 and/or SUR1) that make up the pancreatic beta cell adenosine triphosphate-sensitive potassium channel, which is crucial for the regulation of glucose-induced insulin secretion. C129739 Monogenic Diabetes C90259 NICHD Terminology C131848 K ATP Permanent Neonatal Diabetes K ATP Permanent Neonatal Diabetes PNDM K ATP channel-associated neonatal diabetes mellitus that does not resolve spontaneously. K ATP channel-associated neonatal diabetes mellitus that does not resolve spontaneously. C129739 Monogenic Diabetes C90259 NICHD Terminology C131849 Hexose-6-phosphate Dehydrogenase Deficiency Hexose-6-Phosphate Dehydrogenase Deficiency Cortisone Reductase Deficiency Type 1 Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency. Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C131850 Hyperthyroxinemia Hyperthyroxinemia Supranormal concentration of thyroxine in the blood. Supranormal concentration of thyroxine in the blood. C36285 Endocrine System Finding C90259 NICHD Terminology C131851 Hyperphosphatemic Familial Tumoral Calcinosis Hyperphosphatemic Familial Tumoral Calcinosis An autosomal recessive disorder caused by loss-of-function mutation(s) in the GALNT3, FGF23, or KL gene, which encode polypeptide N-acetylgalactosaminyltransferase 3, fibroblast growth factor 23, and klotho, respectively. This condition, the biochemical hallmark of which is hyperphosphatemia caused by increased renal phosphate absorption, is characterized by the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and/or bone. An autosomal recessive disorder caused by loss-of-function mutation(s) in the GALNT3, FGF23, or KL gene, which encode polypeptide N-acetylgalactosaminyltransferase 3, fibroblast growth factor 23, and klotho, respectively. This condition, the biochemical hallmark of which is hyperphosphatemia caused by increased renal phosphate absorption, is characterized by the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and/or bone. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C131852 Congenital Hyperthyroidism Congenital Hyperthyroidism Hyperthyroidism, the cause of which is present at birth. Hyperthyroidism, the cause of which is present at birth. C3123 Hyperthyroidism C90259 NICHD Terminology C131853 Neonatal Severe Primary Hyperparathyroidism Neonatal Severe Primary Hyperparathyroidism An autosomal recessive form of Kenny-Caffey syndrome that is secondary to mutation(s) in the TCBE gene that encodes tubulin-specific chaperone E; it is characterized by the following: hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space, cortical thickening and medullary stenosis of long bones, and small hands and feet. An autosomal recessive form of Kenny-Caffey syndrome that is secondary to mutation(s) in the TCBE gene that encodes tubulin-specific chaperone E; it is characterized by the following: hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space, cortical thickening and medullary stenosis of long bones, and small hands and feet. C48259 Hyperparathyroidism C90259 NICHD Terminology C131854 Ketotic Hypoglycemia Ketotic Hypoglycemia A condition in which hypoglycemia is accompanied by ketosis. This condition may be a manifestation of another condition such as glycogen storage disease, ketone utilization defects, growth hormone deficiency, or cortisol deficiency. A condition in which hypoglycemia is accompanied by ketosis. This condition may be a manifestation of another condition such as glycogen storage disease, ketone utilization defects, growth hormone deficiency, or cortisol deficiency. C3126 Hypoglycemia C90259 NICHD Terminology C131855 Idiopathic Ketotic Hypoglycemia Idiopathic Ketotic Hypoglycemia Accelerated Starvation Ketotic hypoglycemia that usually occurs in young, thin children in association with infection or fasting, and which typically resolves by age 6-8 years. Ketotic hypoglycemia that usually occurs in young, thin children in association with infection or fasting, and which typically resolves by age 6-8 years. C131854 Ketotic Hypoglycemia C90259 NICHD Terminology C131856 Iatrogenic Hypoparathyroidism Iatrogenic Hypoparathyroidism Hypoparathyroidism resulting from medical treatment or intervention. Hypoparathyroidism resulting from medical treatment or intervention. C78350 Hypoparathyroidism C90259 NICHD Terminology C131857 Hypogonadotropic Hypogonadism with Adrenal Hypoplasia Congenita Hypogonadotropic Hypogonadism with Adrenal Hypoplasia Congenita Hypogonadotropic hypogonadism with congenital adrenal hypoplasia associated with mutation(s) in the NR0B1 gene (on the X chromosome). Hypogonadotropic hypogonadism with congenital adrenal hypoplasia associated with mutation(s) in the NR0B1 gene (on the X chromosome). C9227 Hypogonadism C90259 NICHD Terminology C131859 Mitochondrial Diabetes Mitochondrial Diabetes Diabetes mellitus caused by mutation(s) in mitochondrial DNA . Diabetes mellitus caused by mutation(s) in mitochondrial DNA . C2985 Diabetes Mellitus C90259 NICHD Terminology C131860 Jod-Basedow Jod-Basedow Jod-Basedow Phenomenon Iodine-induced hyperthyroidism. Iodine-induced hyperthyroidism. C3123 Hyperthyroidism C90259 NICHD Terminology C131861 Juvenile Paget Disease Juvenile Paget Disease Familial Hyperphosphatasia A bone disorder caused by autosomal recessive mutation(s) of the gene TNFRSF11B, which encodes tumor necrosis factor receptor superfamily member 11B. This condition is characterized by excessive osteoclastic resorption of bone followed by deposition of weak, disorganized woven bone. Clinical characteristics include short stature, enlarged skull, bony deformities, bone pain, warm skin over the affected bone, joint stiffness, headaches, hearing loss, and elevated serum alkaline phosphatase. A bone disorder caused by autosomal recessive mutation(s) of the gene TNFRSF11B, which encodes tumor necrosis factor receptor superfamily member 11B. This condition is characterized by excessive osteoclastic resorption of bone followed by deposition of weak, disorganized woven bone. Clinical characteristics include short stature, enlarged skull, bony deformities, bone pain, warm skin over the affected bone, joint stiffness, headaches, hearing loss, and elevated serum alkaline phosphatase. C97045 Metabolic Bone Disease C90259 NICHD Terminology C131862 Gonadotropin-Resistant Ovary Syndrome Gonadotropin-Resistant Ovary Syndrome Resistant Ovary Syndrome Ovarian dysfunction due to a defect at the receptor or post receptor level, or due to the presence of antibodies against gonadotropin receptors, resulting in deficient gonadotropin signaling that causes elevated concentrations of follicle stimulating hormone and/or luteinizing hormone. A distinguishing feature is the presence of normal numbers of ova. Ovarian dysfunction due to a defect at the receptor or post receptor level, or due to the presence of antibodies against gonadotropin receptors, resulting in deficient gonadotropin signaling that causes elevated concentrations of follicle stimulating hormone and/or luteinizing hormone. A distinguishing feature is the presence of normal numbers of ova. C28193 Syndrome C90259 NICHD Terminology ROS || Savage Syndrome C131863 Iatrogenic Contrasexual Pubertal Development Iatrogenic Contrasexual Pubertal Development Contrasexual pubertal development caused by medical intervention. Contrasexual pubertal development caused by medical intervention. C103186 Differences of Sex Development C90259 NICHD Terminology C131864 Idiopathic 46,XY Differences of Sex Development Idiopathic 46,XY Differences of Sex Development Idiopathic 46,XY Disorder of Sex Development Conditions affecting individuals whose karyotype is 46,XY that is characterized by atypical development of the internal or external sex structures, or the gonads, and in whom no genetic, environmental, or biochemical causation can be established. Conditions affecting individuals whose karyotype is 46,XY that is characterized by atypical development of the internal or external sex structures, or the gonads, and in whom no genetic, environmental, or biochemical causation can be established. C103186 Differences of Sex Development C90259 NICHD Terminology C131865 Luteinizing Hormone Deficiency Luteinizing Hormone Deficiency LH deficiency || Lutropin Deficiency Subnormal concentration of luteinizing hormone. Subnormal concentration of luteinizing hormone. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C131866 Isolated Non-Pigmented Micronodular Adrenal Hyperplasia Isolated Non-Pigmented Micronodular Adrenal Hyperplasia A subtype of micronodular adrenal hyperplasia, characterized by multiple non-pigmented nodules. A subtype of micronodular adrenal hyperplasia, characterized by multiple non-pigmented nodules. C34360 Congenital Adrenal Hyperplasia C90259 NICHD Terminology C131867 Miniature Adult Form of AHC Miniature Adult Form of AHC An autosomal recessive or sporadic form of adrenal hypoplasia congenita frequently associated with central nervous system anomalies including anencephaly and pituitary defects. Histologically the adrenal gland is distinguished by the absence of fetal adrenal cortex and the presence of a small amount of normal, permanent adult adrenal cortex. An autosomal recessive or sporadic form of adrenal hypoplasia congenita frequently associated with central nervous system anomalies including anencephaly and pituitary defects. Histologically the adrenal gland is distinguished by the absence of fetal adrenal cortex and the presence of a small amount of normal, permanent adult adrenal cortex. C35261 Adrenal Hypoplasia Congenita C90259 NICHD Terminology C131868 Metaphyseal Chondrodysplasia, Jansen Type Metaphyseal Chondrodysplasia, Jansen Type A form of metaphyseal chondrodysplasia caused by mutation(s) in the PTH1R gene, encoding parathyroid hormone/parathyroid hormone-related peptide receptor. This condition is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and a small mandible. Hypercalcemia and hypophosphatemia due to PTH resistance can appear later in childhood. A form of metaphyseal chondrodysplasia caused by mutation(s) in the PTH1R gene, encoding parathyroid hormone/parathyroid hormone-related peptide receptor. This condition is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and a small mandible. Hypercalcemia and hypophosphatemia due to PTH resistance can appear later in childhood. C3101 Genetic Disorder C90259 NICHD Terminology C132051 Ectopic Thyroid Gland Ectopic Thyroid Gland Thyroid Ectopy Location of the thyroid gland somewhere other than at the base of the neck. Location of the thyroid gland somewhere other than at the base of the neck. C36285 Endocrine System Finding C90259 NICHD Terminology C132052 Lingual Thyroid Gland Lingual Thyroid Gland Ectopic thyroid gland located at the base of the tongue. Ectopic thyroid gland located at the base of the tongue. C36285 Endocrine System Finding C90259 NICHD Terminology C132053 Iodine Deficiency Hypothyroidism Iodine Deficiency Hypothyroidism Hypothyroidism due to Iodine Deficiency Hypothyroidism due to insufficient intake of iodine. Hypothyroidism due to insufficient intake of iodine. C26800 Hypothyroidism C90259 NICHD Terminology C132054 Euthyroid Condition Euthyroid Condition Derangement of the thyroid gland or thyroid hormone metabolism that is unaccompanied by signs or symptoms of hypothyroidism or hyperthyroidism. Derangement of the thyroid gland or thyroid hormone metabolism that is unaccompanied by signs or symptoms of hypothyroidism or hyperthyroidism. C36285 Endocrine System Finding C90259 NICHD Terminology C132055 Autoimmune Hypophysitis Autoimmune Hypophysitis Lymphocytic Hypophysitis An autoimmune condition affecting the pituitary gland, characterized by lymphocytic infiltration, commonly presenting with pituitary hormone deficiencies. An autoimmune condition affecting the pituitary gland, characterized by lymphocytic infiltration, commonly presenting with pituitary hormone deficiencies. C36285 Endocrine System Finding C90259 NICHD Terminology C132059 Lack of Adrenarche Lack of Adrenarche Absent or incomplete development of adrenal androgen-mediated secondary sexual characteristics. Absent or incomplete development of adrenal androgen-mediated secondary sexual characteristics. C36285 Endocrine System Finding C90259 NICHD Terminology C132060 Activating TSHR Gene Mutation Activating Thyroid Stimulating Hormone Receptor Gene Mutation Mutation(s) in the TSHR gene resulting in increased function of the thyroid stimulating hormone receptor. Mutation(s) in the TSHR gene resulting in increased function of the thyroid stimulating hormone receptor. C3101 Genetic Disorder C90259 NICHD Terminology C132061 Inactivating TSHR Gene Mutation Inactivating Thyroid Stimulating Hormone Receptor Gene Mutation Mutation(s) in the TSHR gene, resulting in decreased function of the thyroid stimulating hormone receptor. Mutation(s) in the TSHR gene, resulting in decreased function of the thyroid stimulating hormone receptor. C3101 Genetic Disorder C90259 NICHD Terminology C132062 Osteoma Cutis Osteoma Cutis Heterotopic ossification of the skin not associated with a preexisting lesion or process, such as inflammation or neoplasia. Heterotopic ossification of the skin not associated with a preexisting lesion or process, such as inflammation or neoplasia. C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C132096 Simple Virilizing 21-Hydroxylase Deficiency Simple Virilizing 21-Hydroxylase Deficiency Simple Virilizing 21-OHD A classic form of congenital adrenal hyperplasia that is characterized by severe 21-hydroxylase deficiency, resulting in glucocorticoid and mineralocorticoid deficiency, but without clinically significant salt wasting, and with androgen excess, which causes virilization in female infants. A classic form of congenital adrenal hyperplasia that is characterized by severe 21-hydroxylase deficiency, resulting in glucocorticoid and mineralocorticoid deficiency, but without clinically significant salt wasting, and with androgen excess, which causes virilization in female infants. C131087 21-Hydroxylase Deficiency C90259 NICHD Terminology C13235 Fetus Fetus An unborn or unhatched vertebrate in the later stages of development showing the main recognizable features of the mature being. C25190 Person C90259 NICHD Terminology C13236 Body Fluid or Substance Body Fluid or Substance Material produced by living organisms; it can be a necessary constituent of, or product of an organismal process. C45306 Substance C90259 NICHD Terminology C13257 Breast Milk Breast Milk Milk produced by female mammals for the purpose of feeding their young. C13236 Body Fluid or Substance C90259 NICHD Terminology C13280 Sweat Sweat Perspiration || Sweats The liquid secreted by the sweat glands, having a salty taste and a pH that varies from 4.5 to 7.5. Sweat produced by the eccrine sweat glands is clear with a faint characteristic odor, and contains water, sodium chloride, and traces of albumin, urea, and other compounds. Its composition varies with many factors, e.g., fluid intake, external temperature and humidity, and some hormonal activity. Sweat produced by the larger, deeper, apocrine sweat glands of the axillae contains, in addition, organic material which on bacterial decomposition produces an offensive odor. The secretion by the sweat glands that is primarily composed of water and salt. C100104 Sign or Symptom C90259 NICHD Terminology C14139 Immunocompromised Immunocompromised Immunocompromised Host || Immunocompromised Patient || Immunosuppressed || Immunosuppressed Host || Immunosuppressed Patient A loss of any arm of immune functions, resulting in potential or actual increase in infections. This state may be reached secondary to specific genetic lesions, syndromes with unidentified or polygenic causes, acquired deficits from other disease states, or as result of therapy for other diseases or conditions. A loss of any arm of immune functions resulting in potential or actual increase in infections. This state may be reached due to specific genetic lesions, syndromes with unidentified or polygenic causes, acquired deficits from other disease states, or as result of therapy for other diseases or conditions. C3507 Immune System Disorder C90259 NICHD Terminology C14151 Unresectable No Resection Unresectable Not capable of being removed by surgery. Surgical removal of a lesion was not undertaken. C3367 Finding C90259 NICHD Terminology C14187 Bacteria Bacteria Bacteria, Eubacteria || Bacterium Unicellular, prokaryotic organisms that reproduce by cell division and usually have cell walls; can be shaped like spheres, rods or spirals and can be found in virtually any environment. A unicellular, prokaryotic organism that reproduces by cell division and usually has cell walls; can be shaped like spheres, rods, or spirals; and can be found in virtually any environment. C14250 Organism C90259 NICHD Terminology C14198 Disease Vector Vector Disease Vector An invertebrate animal (e.g., tick, mite, mosquito, bloodsucking fly) capable of transmitting an infectious agent among vertebrates. An organism that can carry and transmit a pathogen to another organism. C14250 Organism C90259 NICHD Terminology C14209 Fungus Fungus Fungi A kingdom of eukaryotic, heterotrophic organisms that live as saprobes or parasites, including mushrooms, yeasts, smuts, molds, etc. They reproduce either sexually or asexually, and have life cycles that range from simple to complex. Filamentous fungi refer to those that grow as multicellular colonies (mushrooms and molds). A eukaryotic, heterotrophic organism that lives as a saprobe or parasite, and includes yeasts and molds. It reproduces either sexually or asexually, and has a life cycle that ranges from simple to complex. C14250 Organism C90259 NICHD Terminology C14226 Human Papillomavirus Human Papillomavirus Human Papilloma Virus A strain of papillomavirus that can infect the skin and mucous membranes of humans. C14283 Virus C90259 NICHD Terminology C14250 Organism Organism A living entity. C90259 NICHD Terminology C90259 NICHD Terminology C14259 Poliovirus Poliovirus An enterovirus comprised of an single-stranded positive sense RNA genome and a protein capsid. This virus is the human pathogen that causes poliomyelitis. C14283 Virus C90259 NICHD Terminology C14283 Virus Virus Viruses An infectious agent which consists of two parts, genetic material and a protein coat. These organisms lack independent metabolism, and they must infect the cells of other types of organisms to reproduce. Most viruses are capable of passing through fine filters that retain bacteria, and are not visible through a light microscope. An infectious agent that comprises two parts: genetic material and a protein coat. These organisms lack independent metabolism, and they must infect the cells of other types of organisms to reproduce. C14250 Organism C90259 NICHD Terminology C14286 Yeast Yeast Various single-celled members of the fungal families, ascomycetes, basidiomycetes and imperfect fungi that tend to be unicellular for the greater part of their life cycle. A unicellular fungus that reproduces by mitosis or budding. C14209 Fungus C90259 NICHD Terminology C14329 Microorganism Microbe Microorganism A microscopic organism. The term microorganism may refer to a prokaryote or eukaryote, and may be a unicellular or multicellular organism. All taxonomic kingdoms contain microorganisms. A microscopic organism capable of causing disease in humans, plants, or animals. Most microbes are classified into one of four major groups: bacteria, viruses, fungi, or protozoa. C14250 Organism C90259 NICHD Terminology C14338 Human Papillomavirus Type 16 Human Papillomavirus-16 HPV-16 A virus comprised of a protein coat (capsid) surrounding a circular, double-stranded DNA organized into coding and non-coding regions, which can induce skin and mucosal epithelial lesions. Human papillomavirus-16 (HPV16) has been directly linked to cervical cancer and is significantly associated with invasiveness. Progression from low- to high-grade neoplasia is often associated with the integration of the HPV16 genome into the host chromosome. C14226 Human Papillomavirus C90259 NICHD Terminology C14364 Genital Herpes Genital Herpes Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus. Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus. C3439 Viral Infection C90259 NICHD Terminology C14377 Human Papillomavirus Type 18 Human Papillomavirus-18 HPV-18 A virus comprised of a protein coat (capsid) surrounding a circular, double-stranded DNA organized into coding and non-coding regions, which can induce skin and mucosal epithelial lesions. Human papillomavirus-18 (HPV18) has been directly linked to cervical cancer and plays a role in the pathogenesis of the disease. The virus integrates its DNA at specific chromosomal locations, such as 8q24 and 12q15. The use of molecular markers for HPV18 infection may allow the identification of patients with early stage cervical cancer and those at high risk for disease recurrence. C14226 Human Papillomavirus C90259 NICHD Terminology C1455 Conjugate Vaccine Conjugate Vaccine A category of vaccines created by covalently attaching an antigen from an organism to a carrier protein from the same organism to aid in the delivery of the immunogen. C97125 Polysaccharide Vaccine C90259 NICHD Terminology C15181 Anesthesia Procedure Anesthesia Procedure Treatment with a pharmacological substance that produces a loss of feeling. C25218 Intervention or Procedure C90259 NICHD Terminology C15191 Pheresis Apheresis Hemapheresis || Pheresis A procedure that collects a component of the peripheral blood while returning the rest to the donor. A procedure that collects a component of the peripheral blood while returning the rest to the donor's circulation. C49236 Therapeutic Procedure C90259 NICHD Terminology C15192 Blood Transfusion Blood Transfusion The injection of whole blood or a blood component directly into the bloodstream. C49236 Therapeutic Procedure C90259 NICHD Terminology C15194 Bone Marrow Transplantation Bone Marrow Transplantation BMT A procedure to replace diseased or pathologic bone marrow with transplanted healthy bone marrow cells. A therapeutic procedure that involves the transplantation of bone marrow from a donor to a recipient. C49236 Therapeutic Procedure C90259 NICHD Terminology C15220 Diagnosis Diagnosis The investigation, analysis and recognition of the presence and nature of disease, condition, or injury from expressed signs and symptoms; also, the scientific determination of any kind; the concise results of such an investigation. C3367 Finding C90259 NICHD Terminology C15258 Immunization Immunization Inoculating an individual with either killed or live agents to prevent contraction of a disease. C25218 Intervention or Procedure C90259 NICHD Terminology C15302 Physical Therapy Physical Therapy PT || Physiotherapy The treatment of deformity or disease through mechanical force and movement, including both active and passive exercises, intended to ameliorate injury, increase mobility, and improve overall function. The use of exercises and physical activity to restore movement, reduce pain, strengthen muscles, and improve balance and posture in order to restore the ability to function. Therapists provide education and suggest activity modification suited to an individual. C49236 Therapeutic Procedure C90259 NICHD Terminology C15304 Plasmapheresis Plasmapheresis Plasma Exchange A procedure that collects plasma from the peripheral blood while returning the rest to the donor. A procedure that collects plasma from the peripheral blood while returning the rest to the donor's circulation. C15191 Apheresis C90259 NICHD Terminology C15329 Surgical Procedure Surgical Procedure A diagnostic or treatment procedure performed by manual and/or instrumental means, often involving an incision and the removal or replacement of a diseased organ or tissue; of or relating to or involving or used in surgery or requiring or amenable to treatment by surgery. C25218 Intervention or Procedure C90259 NICHD Terminology C15332 Gynecological Surgical Procedure Gynecologic Surgical Procedure Surgery performed on the female reproductive system. C15329 Surgical Procedure C90259 NICHD Terminology C15430 Peripheral Blood Stem Cell Transplantation Peripheral Blood Stem Cell Transplantation PBSCT A method of hematopoietic reconstitution utilizing stem cells harvested from the circulating blood of a patient or donor. Peripheral blood stem cell transplantation (PBSCT) is used for the treatment of certain blood disorders, following partial or complete bone marrow ablation, or following high dose chemotherapy or radiation treatment for cancer. Immature circulating blood cells, similar to stem cells in the bone marrow, are removed before treatment. The cells are then given to the patient after treatment to help the bone marrow recover and continue producing healthy blood cells. Transplantation may be autologous (the patient's own blood cells are used), allogeneic (blood cells are donated by someone else), or syngeneic (blood cells are donated by an identical twin). A therapeutic procedure that involves the transplantation of mobilized hematopoietic stem cells harvested from a donor's peripheral blood to a recipient. C49236 Therapeutic Procedure C90259 NICHD Terminology C15431 Hematopoietic Cell Transplantation Hematopoietic Stem Cell Transplantation HSCT A therapeutic procedure that involves the transplantation of hematopoietic stem cells, either with the patient as their own donor or from a donor to a patient. This can be used for treatment of malignant and non-malignant diseases. A therapeutic procedure that involves the transplantation of hematopoietic stem cells from a donor to a recipient. C49236 Therapeutic Procedure C90259 NICHD Terminology C15640 Umbilical Cord Blood Transplantation Cord Blood Transplantation Umbilical Cord Blood Transplantation A therapeutic procedure that involves the transplantation of hematopoietic stem cells collected from the umbilical cord or placenta. A therapeutic procedure that involves the transplantation of hematopoietic stem cells collected from the umbilical cord or placenta. C49236 Therapeutic Procedure C90259 NICHD Terminology C15642 Epidural Block Epidural Block An anesthetic procedure that involves administering pharmaceutical agents into the epidural space of the spinal canal. Frequently administered agents include local anesthetics and analgesics. C64381 Regional Anesthesia Procedure C90259 NICHD Terminology C15699 T-Cell Depletion Therapy T-Cell Depletion T-Cell Depletion Therapy Treatment to destroy T cells, which play an important role in the immune response. Elimination of T cells from a bone marrow graft or peripheral blood stem cell graft from a donor may reduce the chance of an immune reaction against the recipient's tissues. Treatment to destroy T cells, which play an important role in the immune response. Elimination of T cells from a bone marrow graft or peripheral blood stem cell graft from a donor may reduce the chance of graft-versus-host-disease. C49236 Therapeutic Procedure C90259 NICHD Terminology C15709 Genetic Testing Genetic Testing Genetic Test The process of isolating and testing the DNA of an embryo or a person to detect the presence of genetic alterations or defects that may predispose to the future development of a disease or disorder. C25294 Laboratory Procedure C90259 NICHD Terminology C1572 Recombinant Viral Vaccine Recombinant Viral Vaccine A vaccine produced from genetically engineered viral vector by introduction of foreign genetic materials to activate immune response in a host. C923 Vaccine C90259 NICHD Terminology C15986 Pharmacotherapy Drug Therapy Pharmacotherapy Treatment of disease through the use of drugs. C25218 Intervention or Procedure C90259 NICHD Terminology C16295 Antibody Antibody A type of protein made by B lymphocytes in response to a foreign substance (antigen). Each antibody only binds to a specific antigen, helping to destroy the antigen directly or by assisting white blood cells to destroy the antigen. C13236 Body Fluid or Substance C90259 NICHD Terminology C16326 Behavior Behavior The actions or reactions of an object or organism, usually in relation to the environment or surrounding world of stimuli. C19988 Organismal Process C90259 NICHD Terminology C16423 Child Child An age group comprised of individuals who are not yet an adult. The specific cut-off age will vary by purpose. C25190 Person C90259 NICHD Terminology C1643 Pneumococcal Polyvalent Vaccine Pneumococcal Polyvalent Vaccine PCV 23 || Pneumococcal 23-valent Polysaccharide Vaccine An polyvalent vaccine used to prevent infection by the bacterium Streptococcus pneumoniae. Pneumococcal polyvalent vaccine contains highly purified capsular antigens from the 23 most prevalent or invasive pneumococcal types of Streptococcus pneumoniae to ensure cross-protection. Following vaccination, protective capsular type-specific antibody levels typically develop by the third week; serotype-specific antibody levels generally decline after 5-10 years. C97125 Polysaccharide Vaccine C90259 NICHD Terminology C16495 Demographics Demographics The statistical characterization of human populations or segments of human populations (e.g., characterization by age, sex, race, or income). C20189 Property or Attribute C90259 NICHD Terminology C16564 Ethnic Group Ethnic Group A social group characterized by a distinctive social and cultural tradition that is maintained from generation to generation. Members share a common history and origin and a sense of identification with the group. They have similar and distinctive features in their lifestyle habits and shared experiences. They often have a common genetic heritage which may be reflected in their experience of health and disease. C16495 Demographics C90259 NICHD Terminology C16576 Female Female A person who belongs to the sex that normally produces ova. The term is used to indicate biological sex distinctions, or cultural gender role distinctions, or both. C28421 Sex C90259 NICHD Terminology C16731 Newborn Newborn An age group comprised of infants during the first month after birth. C16423 Child C90259 NICHD Terminology C16955 Parity Parity The number of pregnancies reaching 20 weeks and 0 days of gestation or beyond, regardless of the number of fetuses or outcomes. The number of pregnancies reaching 20 weeks and 0 days of gestation or beyond, regardless of the number of fetuses or outcomes. C25447 Characteristic C90259 NICHD Terminology C17049 Race Race An arbitrary classification of a taxonomic group that is a division of a species. It usually arises as a consequence of geographical isolation within a species and is characterized by shared heredity, physical attributes and behavior, and in the case of humans, by common history, nationality, or geographic distribution. C16495 Demographics C90259 NICHD Terminology C17214 Disease Transmission Transmission A passage or transfer, as of a disease from one individual to another. The conveyance of an infection to a person. C3367 Finding C90259 NICHD Terminology C17230 Ultrasonography Ultrasonography Ultrasound || Ultrasound Imaging A technique in which high-frequency sound waves are bounced off internal organs and the echo pattern is converted into a 2 dimensional picture of the structures beneath the transducer. C18020 Diagnostic Procedure C90259 NICHD Terminology C17449 Antibiotic Resistance Antibiotic Resistance The mechanisms, functions, activities, or processes exhibited by microorganisms, especially bacteria, to resist or to become tolerant to antibiotics. The reduced susceptibility of microorganisms to an anti-infective drug(s). C3367 Finding C90259 NICHD Terminology C17612 Central Venous Access Catheter Central Venous Access Catheter A venous catheter positioned with the tip in the proximal third of the superior vena cava, the right atrium, or the inferior vena cava. C62103 Device C90259 NICHD Terminology C17629 Tracheostomy Tube Tracheostomy Tube A 2-inch- to 3-inch-long curved metal or plastic tube that is placed in a surgically created opening (tracheostomy) in the windpipe to maintain patency. C62103 Device C90259 NICHD Terminology C17649 Other Other Different than the one(s) previously specified or mentioned. Different than the one(s) previously specified or mentioned. (NCI) C25180 Indicator C90259 NICHD Terminology C17706 Anergy Anergy Diminished immune responsiveness to specific antigens. Induced or programmed clonal lymphocyte anergy is believed to be the second major mechanism (after clonal deletion) of the development of self tolerance by the immune system. Diminished cellular immune responsiveness to one or more antigens. C3367 Finding C90259 NICHD Terminology C17770 Maturation Maturation The act, or process, of natural progression in physical and psychological maturation from a previous, lower, or embryonic stage to a later, more complex, or adult stage. C19988 Organismal Process C90259 NICHD Terminology C17953 Education Level Education Level An indication of the years of schooling completed in graded public, private, or parochial schools, and in colleges, universities, or professional schools. C16495 Demographics C90259 NICHD Terminology C18020 Diagnostic Procedure Diagnostic Procedure Any procedure or test to diagnose a disease or disorder. C25218 Intervention or Procedure C90259 NICHD Terminology C18772 Personal Medical History Personal Medical History A record of a patient's background regarding health and the occurrence of disease events of the individual. In addition, personal medical history may be a variable in epidemiologic studies. C90492 Personal Information C90259 NICHD Terminology C1909 Pharmacologic Substance Pharmacologic Substance Any natural, endogenously-derived, synthetic or semi-synthetic compound with pharmacologic activity. A pharmacologic substance has one or more specific mechanism of action(s) through which it exerts one or more effect(s) on the human or animal body. They can be used to potentially prevent, diagnose, treat or relieve symptoms of a disease. Formulation specific agents and some combination agents are also classified as pharmacologic substances. C45306 Substance C90259 NICHD Terminology C1920 Attenuated Live Virus Vaccine Attenuated Live Virus Vaccine Live vaccines prepared from microorganisms which have undergone physical adaptation (e.g., by radiation or temperature conditioning) or serial passage in laboratory animal hosts or infected tissue/cell cultures, in order to produce avirulent mutant strains capable of inducing protective immunity. Live-attenuated vaccines are used when a CD8+ T Cell (cellular cytotoxicity) response is desired. C97116 Attenuated Live Vaccine C90259 NICHD Terminology C1951 Human Papilloma Virus Vaccine Human Papilloma Virus Vaccine HPV || Recombinant Human Papilloma Virus Vaccine A recombinant vaccine of different types of HPV proteins which are well-conserved within types with a significant inter-type variation. C1572 Recombinant Viral Vaccine C90259 NICHD Terminology C19988 Organismal Process Organismal Process A biologic function, activity, or process involving either specialized organ functions, individual organs, organ systems, body parts, or whole organisms. C90259 NICHD Terminology C90259 NICHD Terminology C20189 Property or Attribute Property or Attribute A distinguishing quality or prominent aspect of a person, object, action, process, or substance. C90259 NICHD Terminology C90259 NICHD Terminology C20197 Male Male A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. C28421 Sex C90259 NICHD Terminology C20989 Physical Examination Physical Examination A systemic evaluation of the body and its functions using visual inspection, palpation, percussion and auscultation. The purpose is to determine the presence or absence of physical signs of disease or abnormality for an individual's health assessment. C25214 Evaluation Procedure C90259 NICHD Terminology C20993 Research or Clinical Assessment Tool Clinical Assessment Tool Any one of several evaluation/assessment tools used to ascertain a patient's condition or diagnosis. C25214 Evaluation Procedure C90259 NICHD Terminology C21129 Physical Dependence Physical Dependence The neuroadaptation of the body to the presence of an opioid, and is characterized by the onset of acute symptoms and signs of withdrawal if the opioid is stopped or an opioid antagonist is administered. A physiological state characterized by tolerance to a pharmacological substance and symptoms of withdrawal if use is abruptly ended. C26835 Nervous System Disorder C90259 NICHD Terminology C21131 Psychological Dependence Psychological Dependence A behavioral pattern characterized by a craving for the mood-altering effects of a drug and an overwhelming preoccupation with obtaining and using the drug. A strong desire or sense of compulsion to use a pharmacological substance. C2893 Psychiatric Disorder C90259 NICHD Terminology C21514 Temporal Qualifier Temporal Qualifier Terms used to indicate units of time or other terms associated with time. C20189 Property or Attribute C90259 NICHD Terminology C21527 Complement C3 Complement C3 C3 Complement C3 (1663 aa, ~187 kDa) is encoded by the human C3 gene. This protein plays a role in complement-mediated immunity. The component of the early complement cascade common to all three activation pathways. C3 is consumed by proteolysis upon activation. C3 levels are generally low when immune complex mediated diseases are active, such as systemic lupus erythematosus or post-streptococcal glomerulonephritis. C13236 Body Fluid or Substance C90259 NICHD Terminology C2322 Corticosteroid Corticosteroid Hormones synthesized in the cortex of the adrenal gland and consist of two subclasses, glucocorticoids (carbohydrate regulation) and mineralocorticoids (electrolyte regulation). A group of naturally occurring chemical hormones produced by the adrenal cortex that regulate a large number of physiologic processes including stress responses, immune responses and inflammation, carbohydrate and protein metabolism, and electrolyte balance. The group includes glucocorticoids and mineralocorticoids. Synthetic analogues of naturally occurring hormones are also referred to as corticosteroids, and often simply called steroids. C1909 Pharmacologic Substance C90259 NICHD Terminology C2323 Glucocorticoid Glucocorticoid A corticosteroid that supports a variety of cardiovascular, metabolic, immunologic, and homeostatic functions, and which binds specifically to the glucocorticoid receptor (GR; NR3C1). Glucocorticoid binding to GR leads to the transportation of the activated receptor-glucocorticoid complex to the nucleus, after which it binds to glucocorticoid response elements (GRE) and regulates the expression of GR-responsive genes. A group of corticosteroids that affect carbohydrate metabolism, inhibit corticotropin secretion, and possess pronounced anti-inflammatory activity. C1909 Pharmacologic Substance C90259 NICHD Terminology C247 ACE Inhibitor ACE Inhibitor Angiotensin-Converting Enzyme Inhibitor Any substance that inhibits angiotensin-converting enzyme (ACE), an enzyme that catalyzes the conversion of angiotensin I to angiotensin II. Inhibition of ACE results in a reduction in angiotensin II and angiotensin II-induced aldosterone secretion, causing vasodilation and natriuresis. A pharmaceutical agent that inhibits angiotensin-converting enzyme (ACE), which catalyzes the conversion of angiotensin I to angiotensin II. Inhibition of ACE results in a reduction in angiotensin II and angiotensin II-induced aldosterone secretion, causing vasodilation and natriuresis. It is primarily used for the reduction of proteinuria and the treatment of hypertension. C1909 Pharmacologic Substance C90259 NICHD Terminology C25150 Age Chronological Age Postnatal Age How long something has existed; elapsed time since birth. The time elapsed since birth. C89335 Life Stage C90259 NICHD Terminology C25160 City City A large and densely populated urban area; a city specified in an address. C16495 Demographics C90259 NICHD Terminology C25164 Date Date The particular day, month and year an event has happened or will happen. C21514 Temporal Qualifier C90259 NICHD Terminology C25178 Health Health Refers to a person's state of physical, mental and social well-being; usually it refers specifically to the state of being in good health, a state of complete physical, mental and social well-being, and does not consist only of the absence of disease or infirmity. In any organism health constitutes a form of homeostasis with inputs and outputs of energy and mass in approximate equilibrium allowing for growth and continued survival. In humans, a subjective feeling of well-being coming from somatic and cognitive perceptions is considered an essential component of health. C92722 Qualitative Concept C90259 NICHD Terminology C25180 Indicator Indicator An event, entity or condition that typically characterizes a prescribed environment or situation and determines or aids in determining whether certain stated circumstances exist or criteria are satisfied. C92722 Qualitative Concept C90259 NICHD Terminology C25190 Person Person A human being. C90259 NICHD Terminology C90259 NICHD Terminology C25191 Person Name Person Name A word or group of words indicating the identity of a person usually consisting of a first (personal) name and a last (family) name with an optional middle name. In some cultural traditions the family name comes first. C90492 Personal Information C90259 NICHD Terminology C25206 Temperature Temperature A measure of the average kinetic energy of a system of particles. Temperature may be quantified, in the context of thermodynamics, as the potential of one system to transfer thermal energy to another system until both systems reach a state of thermal equilibrium. C25447 Characteristic C90259 NICHD Terminology C25207 Time Time The continuum of experience in which events pass from the future through the present to the past. C20189 Property or Attribute C90259 NICHD Terminology C25214 Evaluation Evaluation Procedure Systematic, objective appraisal of the significance, effectiveness, and impact of activities or condition according to specified objectives and criteria. C25218 Intervention or Procedure C90259 NICHD Terminology C25215 Karyotype Karyotype The assessment of the chromosomal morphology and number in somatic cells of an individual. The assessment of the chromosomal morphology and number in somatic cells of an individual. C15709 Genetic Testing C90259 NICHD Terminology C25218 Intervention or Procedure Intervention or Procedure Procedure An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects. C90259 NICHD Terminology C90259 NICHD Terminology C25294 Laboratory Procedure Laboratory Procedure Any procedure that involves testing or manipulating a sample of blood, urine, or other body substance in a laboratory setting. C18020 Diagnostic Procedure C90259 NICHD Terminology C25334 Length Length The linear extent in space from one end of something to the other end, or the extent of something from beginning to end. C25447 Characteristic C90259 NICHD Terminology C25381 Maiden Name Maiden Name A woman's surname before marriage. C90492 Personal Information C90259 NICHD Terminology C25407 Address Address A standardized representation of the location of a person, business, building, or organization. C16495 Demographics C90259 NICHD Terminology C25447 Characteristic Characteristic The distinguishing qualities or prominent aspect of a person, object, action, process, or substance. C20189 Property or Attribute C90259 NICHD Terminology C25534 Induration Induration The quality of being hard, the process of hardening, or an abnormally hard spot or place, particularly of the skin. The quality of being hard, the process of hardening, or an abnormally hard spot or place, particularly of the skin. C100104 Sign or Symptom C90259 NICHD Terminology C25596 Breast Feeding Breast Feeding The nursing of an infant at the mother's breast. The nursing of an infant at the mother's breast. C16326 Behavior C90259 NICHD Terminology C25598 Observation Observation Watching something and taking note of what happens. C18020 Diagnostic Procedure C90259 NICHD Terminology C25621 Postal Code Postal Code Any system designed to expedite the sorting and delivery of mail by assigning a series of alphanumeric codes to each delivery area. Also used to refer to any individual delivery area code. C16495 Demographics C90259 NICHD Terminology C257 Nonsteroidal Antiinflammatory Drug Nonsteroidal Antiinflammatory Drug NSAID A pharmacological agent that is not a steroid and has potential anti-inflammatory, analgesic, antipyretic and anti-platelet activities. Most nonsteroidal anti-inflammatory drugs (NSAIDs) act by inhibiting the conversion of arachidonic acid to the precursors of prostaglandin and thromboxane by cyclooxygenase enzymes. A class of medication typically used for its analgesic, antipyretic, anti-inflammatory, and/or platelet-inhibitory effects. Effects are classically exerted through inhibition of cyclooxygenase 1 and/or cyclooxygenase 2, though other pharmacologic effects may be involved. C1909 Pharmacologic Substance C90259 NICHD Terminology C25709 Unit of Measure Unit of Measure A named quantity in terms of which other quantities are measured or specified, used as a standard measurement of like kinds. C20189 Property or Attribute C90259 NICHD Terminology C25737 Identification Identification The procedure of having an identity established. C92722 Qualitative Concept C90259 NICHD Terminology C25738 Infarction Infarct A localized pathological necrosis of tissue resulting from obstruction of the blood supply usually by a thrombus, an embolus, or vascular torsion. C26323 Hematologic Disorder C90259 NICHD Terminology C25742 Pregnancy Pregnancy The state or condition of having a developing embryo or fetus in the body (uterus), after union of an ovum and spermatozoon, during the period from conception to birth. The fertilization and development of one or more offspring, known as an embryo or fetus, in a woman's uterus. C19988 Organismal Process C90259 NICHD Terminology C258 Antibiotic Antibiotic Antimicrobial Substances naturally produced by microorganisms or their derivatives that selectively target microorganisms not humans. Antibiotics kill or inhibit the growth of microorganisms by targeting components of the microbial cell absent from human cells, including bacterial cell walls, cell membrane, and 30S or 50S ribosomal subunits. These substances are used in the treatment of bacterial and other microbial infections. Substances that kill or inhibit the growth or other functions of microorganisms. These substances are used in the treatment of bacterial and other microbial infections, though this term is most often used to describe antibacterial agents. C1909 Pharmacologic Substance C90259 NICHD Terminology C26323 Hematologic and Lymphocytic Disorder Hematologic Disorder Hematological Disorder A neoplastic or non-neoplastic disorder that affects the production and proliferation of the hematopoietic cells including lymphoid cells, the synthesis of hemoglobin, and/or the mechanisms of coagulation. C2991 Disease or Disorder C90259 NICHD Terminology C2643 Trivalent Influenza Vaccine Trivalent Influenza Vaccine Flu prevention || Flu prophylaxis || Flu shot || Flu vaccination || TIV A synthetic vaccine consisting of hemagglutinin (HA) antigens derived from three inactivated influenza viruses, two different influenza type A strains and one influenza type B strain. Trivalent influenza vaccine (TIV) is formulated annually, based on influenza strains projected to be prevalent in the upcoming flu season. Upon administration, the TIV provides active immunization against the three influenza virus strains, thereby protecting against influenza infection. A form of TIV containing higher concentrations of HA antigens may be used in older patients to elicit a more effective immune response. C2848 Polyvalent Vaccine C90259 NICHD Terminology C2660 Tetanus Toxoid Vaccine Tetanus Toxoid Vaccine TT A preparation of formaldehyde-deactivated toxin isolated from the bacterium Clostridium tetani. Tetanus toxoid is used for booster injection and can stimulate the production of antitoxin antibodies. This agent may be used as an adjuvant in cancer vaccines. C96398 Toxoid Vaccine C90259 NICHD Terminology C26682 Abdominal Pain Abdominal Pain Painful sensation in the abdominal region. Discomfort in the central region of the body located between the chest and the groin. C3368 Gastrointestinal System Signs and Symptoms C3303 Pain C90259 NICHD Terminology C26685 Placental Abruption Placental Abruption Abruptio Placentae, Premature Separation of Placenta Placental separation from the uterus with bleeding (concealed or vaginal) before fetal birth, with or without maternal/fetal compromise. (reVITALize) Placental separation from the uterus with bleeding (concealed or vaginal) before fetal birth, with or without maternal/fetal compromise. [verbatim from reVITALize] C34941 Pregnancy Complication C90259 NICHD Terminology C26686 Abscess Abscess An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body. The accumulation of pus and necrotic material that is separated from the surrounding tissue by a fibrous capsule. C26726 Infectious Disorder C90259 NICHD Terminology C26687 Acanthosis Nigricans Acanthosis Nigricans A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy. Abnormal darkening of the skin in body folds and creases characterized by a velvet texture and appearance. C36281 Integumentary System Finding C90259 NICHD Terminology C26689 Addison's Disease Addison Disease Primary Hypoadrenalism A long-standing and persistent diminished production of adrenocortical hormones due to a disorder originating within the adrenal glands. The diminished production of adrenocortical hormones due to a pathologic process within the adrenal glands. C113172 Primary Adrenal Insufficiency C90259 NICHD Terminology C26691 Adrenocortical Insufficiency Adrenal Insufficiency Adrenal Cortical Hypofunction || Adrenocortical Insufficiency || Hypocortisolemia || Hypocortisolism An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency). Subnormal concentration of cortisol, with or without mineralocorticoid insufficiency. C3009 Endocrine System Disorder C90259 NICHD Terminology C26692 Factor I Deficiency Factor I Deficiency Fibrinogen Deficiency || Hypofibrinogenemia A usually inherited blood coagulation disorder characterized by the partial or complete absence of fibrinogen in the blood, resulting in bleeding. A coagulation disorder characterized by the partial or complete absence of fibrinogen (factor I) activity in the blood. C27215 Coagulation Factor Deficiency C36292 Laboratory Test Result C90259 NICHD Terminology C26693 Aneurysm Aneurysm Bulging or ballooning in an area of an artery secondary to arterial wall weakening. C2931 Cardiovascular Disorder C90259 NICHD Terminology C26696 Anxiety Anxiety Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus. An emotional state characterized by excessive worried thoughts that may be accompanied by restlessness, tension, tachycardia, increased blood pressure, and/or dyspnea. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C26697 Aortic Aneurysm Aortic Aneurysm A sac formation resulting from the localized dilatation of the wall of the aorta. C26693 Aneurysm C90259 NICHD Terminology C26698 Apnea Apnea Transient cessation of respiration. Cessation of air flow. C100104 Sign or Symptom C90259 NICHD Terminology C26699 Bacterial Arthritis Bacterial Arthritis Septic Arthritis The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint. Joint inflammation that is caused by a bacterial infection within the joint space. C2883 Arthritis C2890 Bacterial Infection C90259 NICHD Terminology C26700 Infective Arthritis Septic Arthritis The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint. Infection of one or more joints. C2883 Arthritis C90259 NICHD Terminology C26702 Ataxia Ataxia Lack of coordination of muscle movements resulting in the impairment or inability to perform voluntary activities. Causes include peripheral nerve disorders, posterior column injuries, cerebral and cerebellar disorders, basal ganglia disorders, and thalamic disorders. A movement disorder characterized by a lack of coordination of muscle movements resulting in the impaired performance of voluntary activities. C116757 Movement Disorders C90259 NICHD Terminology C26711 Candidiasis Candidiasis Candida Infection Infection with the organism Candida. An infection that is caused by one of many species of the genus Candida. C3245 Fungal Infection C90259 NICHD Terminology C26713 Cataract Cataract Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.) Opacity of the crystalline lens. C26767 Eye Disorder C90259 NICHD Terminology C26715 Cellulitis Cellulitis Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area. An infection of the skin and subcutaneous tissues with induration and erythema. C2890 Bacterial Infection C90259 NICHD Terminology C26716 Cervicitis Cervicitis An acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge. Inflammation of the uterine cervix. C27020 Female Reproductive System Disorder C90259 NICHD Terminology C26717 Chalazion Chalazion An eyelid cyst caused by the blockage of a meibomian gland. An eyelid cyst caused by the blockage of a meibomian gland. C26767 Eye Disorder C90259 NICHD Terminology C26718 Cholangitis Cholangitis Biliary Tract Infection An acute or chronic inflammatory process affecting the biliary tract. Inflammation of the biliary tract. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C26720 Chorioamnionitis Chorioamnionitis A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion. Inflammation of the fetal sac membranes. C35169 Pregnancy Disorder C90259 NICHD Terminology C26721 Hemophilia B Hemophilia B Factor IX Deficiency || Hereditary Factor IX Deficiency || Hereditary Factor IX Deficiency Disease An X-linked inherited bleeding disorder caused by deficiency of the coagulation factor IX. An X-linked recessive deficiency of coagulation factor IX characterized by a tendency to bleed. Hemophilia B occurs in approximately 1 in 20,000 live male births. C3093 Hemophilia C98942 Hereditary Coagulation Factor Deficiency C90259 NICHD Terminology Christmas Disease C26723 Colitis Colitis Inflammation of the colon. Inflammation of the colon. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C26725 Common Variable Immunodeficiency Secondary Hypogammaglobulinemia Acquired Hypogammaglobulinemia A primary immunodeficiency characterized by low levels or absence of all the immunoglobulin classes and lack of B-lymphocytes or plasma cells. It results in recurrent bacterial infections. Complications include autoimmune phenomena and cancer development. Abnormally low level of functional immunoglobulins in the blood that is not associated with a primary immunodeficiency. C3507 Immune System Disorder C90259 NICHD Terminology C26726 Infectious Disorder Infectious Disorder Clinical Infection || ID || Infectious Disease A disorder resulting from the presence and activity of a microbial, viral, fungal, or parasitic agent. It can be transmitted by direct or indirect contact. A disorder resulting from the presence and activity of a microbial, viral, fungal, or parasitic agent. It can be transmitted by direct or indirect contact. C2991 Disease or Disorder C90259 NICHD Terminology C26729 Connective Tissue Disorder Connective Tissue Disorder Disorder of Connective Tissue || Primary Disorder of Connective Tissue A non-neoplastic or neoplastic disorder that affects the connective tissue. A disorder characterized by abnormalities in one or more of the elements of the connective tissues, typically associated with genetic defects. C2991 Disease or Disorder C90259 NICHD Terminology C26730 Corneal Abrasion Corneal Abrasion Injury to the epithelium of the cornea. Injury to the epithelium of the cornea. C99208 Eye Finding C90259 NICHD Terminology C26733 Cranial Nerve Disorder Cranial Nerve Disorder Cranial Nerve Disease || Cranial Neuropathy || Disorder of Cranial Nerve A neoplastic or non-neoplastic disorder that affects one of the cranial nerves. Impaired or altered function of one or more of the cranial nerves. C27580 Peripheral Nervous System Disorder C90259 NICHD Terminology C26734 Congenital Hypothyroidism Congenital Hypothyroidism A deficiency of thyroid hormone present at birth. The etiology can be genetic or environmental, or a combination of both; treatment is based on severity and causality. Hypothyroidism, the cause of which is present at birth. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C26735 Croup Croup Laryngotracheitis || Laryngotracheobronchitis Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor. Swelling and narrowing of the trachea, vocal cords, and bronchi usually due to a viral infection and which typically manifests with stridor and barking cough. C26871 Respiratory System Disorder C90259 NICHD Terminology C26737 Cyanosis Cyanosis Blue Spells A bluish or purplish discoloration of the skin and mucous membranes resulting from a reduced concentration of oxygenated hemoglobin in the blood. A bluish or purplish discoloration of the skin and mucous membranes resulting from a reduced concentration of oxygenated hemoglobin in the blood. C100104 Sign or Symptom C90259 NICHD Terminology C26738 Cystitis Cystitis Inflammation of the urinary bladder. Inflammation of the urinary bladder. C3430 Urinary System Disorder C90259 NICHD Terminology C26739 Sensorineural Hearing Loss Sensorineural Hearing Loss SNHL Hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem. Hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem. C35731 Hearing Loss C90259 NICHD Terminology C26740 Dehydration Dehydration A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis. A state characterized by lower than normal levels of water in the body. C9229 Systemic Disorder C90259 NICHD Terminology C26741 Delusion Delusion False personal beliefs held contrary to reality, despite contradictory evidence and common sense. Firmly held, illogical belief that is unsupported by evidence, and not shared by a sub-cultural group, with which a person is preoccupied . C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C26743 Contact Dermatitis Contact Dermatitis An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen. An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen. C3371 Skin Disorder C90259 NICHD Terminology C26745 Dermatophytosis Dermatophytosis A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area. A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area. C3245 Fungal Infection C90259 NICHD Terminology C26746 Scleroderma Scleroderma A localized or systemic chronic and progressive autoimmune disorder characterized by thickening of the skin and the connective tissues. Localized scleroderma affects only the skin. Systemic scleroderma affects internal organs, including the heart, lungs, gastrointestinal tract, and kidneys. A chronic and progressive autoimmune disorder characterized by thickening of the skin and the connective tissues. C3371 Skin Disorder C90259 NICHD Terminology C26747 Type 2 Diabetes Mellitus Type 2 Diabetes Mellitus Adult Onset Diabetes || Noninsulin Dependent Diabetes || Type 2 Diabetes A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity. Diabetes mellitus caused by decreased insulin action in target tissues and insufficient production of insulin by pancreatic beta cells. C2985 Diabetes Mellitus C90259 NICHD Terminology Adult Onset Diabetes || Noninsulin Dependent Diabetes || Type II Diabetes C26754 Somnolence Somnolence A sleep disorder characterized by excessive sleepiness and drowsiness. Excessive sleepiness and drowsiness. C100104 Sign or Symptom C90259 NICHD Terminology C26756 Dyspepsia Dyspepsia Indigestion An uncomfortable, often painful feeling in the stomach, resulting from impaired digestion. Symptoms include burning stomach pain, bloating, heartburn, nausea, and vomiting. Causes include gastritis, gastric ulcer, gastroesophageal reflux disease, pancreatic disease, and gallbladder disease. Upper abdominal discomfort associated with food intake characterized by post prandial fullness, early satiety and/or epigastric pain or burning. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C26759 Embolism Embolism The blockage of a blood vessel lumen by air or solid material such as blood clot or other tissues (e.g., adipose tissue, cancer cells) that have migrated from another anatomic site. C35552 Cardiovascular System Finding C90259 NICHD Terminology C26760 Encephalitis Encephalitis An inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes. Inflammation of the brain. C96413 Brain Disorder C90259 NICHD Terminology C26765 Enteritis Enteritis Inflammation of the small intestine. Inflammation of the small intestine. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C26766 Epistaxis Epistaxis Nose Bleed Bleeding from the nose. Bleeding from the nose. C45233 Respiratory System Finding C90259 NICHD Terminology C26767 Eye Disorder Eye Disorder A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. C2991 Disease or Disorder C90259 NICHD Terminology C26769 Facial Nerve Palsy Facial Nerve Palsy Bell's Palsy || Facial Palsy Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur. A condition characterized by reduced or absent movement of the ipsilateral face as a consequence of an injury to the seventh cranial nerve. C26733 Cranial Nerve Disorder C90259 NICHD Terminology C26770 Hereditary Factor XII Deficiency Hereditary Factor XII Deficiency A rare autosomal recessive inherited bleeding disorder caused by deficiency of coagulation factor XII. It may be asymptomatic or manifest with bleeding. An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of factor XII activity in the blood. C98942 Hereditary Coagulation Factor Deficiency C90259 NICHD Terminology C26773 Feminization Feminization in Boys Male Feminization The development of secondary female sex characteristics in males. The development of female secondary sexual characteristics (such as breast enlargement, female body habitus) in boys. C36285 Endocrine System Finding C90259 NICHD Terminology C26774 Femur Fracture Femur Fracture Fracture of Femur A traumatic or pathologic injury to the femur in which the continuity of the femur is broken. C3046 Fracture C90259 NICHD Terminology C26775 Flushing Flushing Flushed Reddening of the skin from a transient increase in blood flow. Reddening of the skin from a transient increase in blood flow. C36281 Integumentary System Finding C90259 NICHD Terminology C26780 Gastritis Gastritis Inflammation of the stomach. Inflammation of the stomach. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C26781 Gastroesophageal Reflux Disease Gastroesophageal Reflux Disease GERD A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa. Reflux of stomach contents with symptoms and/or complications from the reflux act. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C26782 Glaucoma Glaucoma Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. Optic nerve damage secondary to increased intraocular pressure. C26767 Eye Disorder C90259 NICHD Terminology C26784 Glomerulonephritis Glomerulonephritis A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies. Inflammation of the glomeruli that can extend to other parts of the kidney. C26833 Nephritis C90259 NICHD Terminology C26785 Goiter Goiter Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing. Enlargement of the thyroid gland. C26836 Nutritional Disorder C3009 Endocrine System Disorder C90259 NICHD Terminology C26786 Gonadal Disorder Gonadal Disorder Disorder of Gonads A non-neoplastic or neoplastic disorder that affects the testis or the ovary. C103186 Differences of Sex Development C3009 Endocrine System Disorder C90259 NICHD Terminology C26787 Gonococcal Urethritis Gonococcal Urethritis GC Urethritis Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact. Urethritis that is caused by Neisseria gonorrhoeae infection. C26904 Urethritis C90259 NICHD Terminology C26791 Hemorrhage Hemorrhage Bleeding The flow of blood from a ruptured blood vessel. Loss of blood. C2931 Cardiovascular Disorder C90259 NICHD Terminology C26792 Hemorrhoid Hemorrhoid Dilated veins in the anal canal. Dilated veins in the anal canal. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C26795 Humerus Fracture Humerus Fracture Fracture of Humerus A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken. C3046 Fracture C90259 NICHD Terminology C26796 Hydronephrosis Hydronephrosis Dilation of the urinary collecting space in the kidney. Dilation of the urinary collecting space in the kidney. C3149 Kidney Disease C90259 NICHD Terminology C26797 Hyperglycemia Hyperglycemia Elevated Blood Glucose Abnormally high level of glucose in the blood. Plasma glucose concentration above the reference range. C36292 Laboratory Test Result C90259 NICHD Terminology C26798 Hypophosphatasia Hypophosphatasia A rare, serious metabolic disorder caused by mutations in the gene encoding tissue non-specific alkaline phosphatase (TNSALP) activity. It is characterized by low activity of TNSALP in the serum. The signs and symptoms vary significantly and include death in utero, failure to thrive, premature loss of deciduous teeth, early loss of the adult dentition, hypercalcemia, osteomalacia, skeletal defects, renal stones, and movement disorders. An autosomal recessive or dominant disorder caused by mutation(s) in the ALPL gene, encoding the alkaline phosphatase, tissue-nonspecific isozyme. The condition is characterized by absent or diminished alkaline phosphatase activity, resulting in the accumulation of inorganic pyrophosphate, which prevents mineralization of hydroxyapatite. The bone mineralization defects have a broad spectrum of severity: mild forms are characterized only by low serum alkaline phosphatase concentrations and early tooth loss; severe cases may manifest with hypercalcemia, and may result in stillbirth or early death. There are five subtypes identified primarily by the age of onset. C27120 Electrolyte Disorder C90259 NICHD Terminology C26799 Hereditary Factor II Deficiency Hereditary Factor II Deficiency A very rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of prothrombin, resulting in bleeding. An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of prothrombin (factor II) activity in the blood. C98942 Hereditary Coagulation Factor Deficiency C90259 NICHD Terminology C26800 Hypothyroidism Hypothyroidism Abnormally low levels of thyroid hormone. Reduced secretion of thyroid hormone(s) by the thyroid gland. C3009 Endocrine System Disorder C90259 NICHD Terminology C26802 Creutzfeldt-Jakob Disease Classic Creutzfeldt-Jakob Disease CJD A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease. A prion disease of humans that is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Three recognized forms are sporadic, familial, and iatrogenic. The iatrogenic form occurs through direct contact with human tissue, a product derived from human tissue, or contaminated medical equipment. C128346 Prion Disease C90259 NICHD Terminology C26805 Keratitis Keratitis Inflammation of the cornea. Inflammation of the cornea. C26767 Eye Disorder C90259 NICHD Terminology C26808 Acute Renal Failure Acute Kidney Injury Acute Renal Failure Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria. Deterioration of renal function, occurring within a time frame of hours to weeks, that results in failure to maintain normal fluid, electrolyte, waste products, and/or acid-base balance. C3149 Kidney Disease C90259 NICHD Terminology C26809 Lacrimal System Disorder Lacrimal System Disorder Disorder of Lacrimal System A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus. C2991 Disease or Disorder C90259 NICHD Terminology C26811 Laryngitis Laryngitis An acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness. Inflammation of the larynx. C118420 Otolaryngologic Disorder C90259 NICHD Terminology C26815 Progressive Multifocal Leukoencephalopathy Progressive Multifocal Leukoencephalopathy A progressive demyelination within the central nervous system associated with reactivation of a latent JC virus infection. A demyelinating central nervous system disease caused by reactivation of the polyomavirus JC, which results in a lytic infection of oligodendrocytes. C26920 Encephalopathy C90259 NICHD Terminology C26816 Leukopenia Leukopenia Leukocytopenia A laboratory test result indicating a decreased number of white blood cells in the peripheral blood. Abnormally low level of white blood cells in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C26819 Cutaneous Lupus Erythematosus Cutaneous Lupus Erythematosus An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease. An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease. C27153 Lupus Erythematosus C90259 NICHD Terminology C26820 Discoid Lupus Erythematosus Discoid Lupus Erythematosus DLE A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE). A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE). C27153 Lupus Erythematosus C90259 NICHD Terminology C26821 Lymphadenitis Lymphadenitis Adenitis Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process. Inflammation of one or more lymph nodes. C3507 Immune System Disorder C90259 NICHD Terminology C26823 Lymphopenia Lymphocytopenia An abnormally small number of lymphocytes in the circulating blood. Abnormally low level of circulating lymphocytes in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C26827 Mediastinitis Mediastinitis An inflammatory process affecting the mediastinum. Inflammation of the mediastinum. C3367 Finding C90259 NICHD Terminology C26828 Meningitis Meningitis A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord. Inflammation of the membranes surrounding the brain and spinal cord. C27582 Central Nervous System Infectious Disease C90259 NICHD Terminology C26829 Menorrhagia Menorrhagia Heavy bleeding during regular menstruation. Abnormally heavy bleeding during menstruation. C27020 Female Reproductive System Disorder C90259 NICHD Terminology C26832 Myelitis Myelitis An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence. Inflammation of the spinal cord. C2934 Central Nervous System Disorder C90259 NICHD Terminology C26833 Nephritis Nephritis Inflammation of renal tissue. C3149 Kidney Disease C90259 NICHD Terminology C26834 Interstitial Nephritis Tubulointerstitial Nephritis Inflammation of the renal tubules and supporting tissues of the kidney. Inflammation of the renal tubules and supporting tissues of the kidney. C3149 Kidney Disease C90259 NICHD Terminology C26835 Nervous System Disorder Nervous System Disorder Disorder of Nervous System || Neurologic Disorder A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves. C2991 Disease or Disorder C90259 NICHD Terminology C26836 Nutritional Disorder Nutritional Disorder Any condition related to a disturbance between proper intake and utilization of nourishment. C9229 Systemic Disorder C90259 NICHD Terminology C26837 Osteogenesis Imperfecta Osteogenesis Imperfecta A group of usually autosomal dominant inherited disorders characterized by defective synthesis of collagen type I resulting in defective collagen formation. It is characterized by brittle and easily fractured bones. C97075 Hereditary Connective Tissue Disorder C90259 NICHD Terminology C26838 Osteomalacia Osteomalacia A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003 Decreased mineralization of newly formed osteoid at sites of bone turnover in established bone due to deficiency of calcium, phosphate, or vitamin D. C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C26840 Osteopetrosis Osteopetrosis A rare genetic disorder inherited in an autosomal dominant, autosomal recessive, or X-linked recessive pattern. In the majority of cases it is caused by mutations in the CLCN7, TCIRG1, or IKBKG genes. It is characterized by excessive bone formation due to the failure of osteoclasts to resorb bone. It manifests with deformities, fractures, hepatosplenomegaly, anemia, and extramedullary hematopoiesis. A group of bone disorders caused by autosomal dominant or recessive mutation(s) in multiple genes involved in osteoclast function, including TCIRG1, CLCN7, OSTM1, SNX10, and PLEKHM1. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it can also be associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C26841 Ovarian Disorder Ovarian Disorder A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors. C27020 Female Reproductive System Disorder C90259 NICHD Terminology C26847 Polyarteritis Nodosa Polyarteritis Nodosa Classic Polyarteritis Nodosa || PAN || Panarteritis Nodosa || Periarteritis Nodosa A necrotizing vasculitis that affects medium-sized arteries, it is usually idiopathic, and may be triggered by viral infections (Hepatitis B, also others). A multisystem disease, it most commonly affects skin (nodules, livedo reticularis) and peripheral nerves; higher morbidity is associated with gastrointestinal, central nervous system, cardiac, and/or other organ involvement. Anti-neutrophil cytoplasmic antibodies (ANCA) are typically negative. A necrotizing vasculitis that affects medium-sized arteries, it is usually idiopathic, and may be triggered by viral infections (Hepatitis B, also others). A multisystem disease, it most commonly affects skin (nodules, livedo reticularis) and peripheral nerves; higher morbidity is associated with gastrointestinal, central nervous system, cardiac, and/or other organ involvement. Anti-neutrophil cytoplasmic antibodies (ANCA) are typically negative. C26912 Vasculitis C90259 NICHD Terminology C26849 Peritonitis Peritonitis Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment. Inflammation of the peritoneum. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C26851 Pharyngitis Pharyngitis Sore Throat Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma. Inflammation of the throat. C118420 Otolaryngologic Disorder C90259 NICHD Terminology C26856 Placenta Accreta Placenta Accreta The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize) The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. [verbatim from reVITALize] C26857 Placental Disorder C90259 NICHD Terminology C26857 Placenta Disorder Placental Disorder A non-neoplastic or neoplastic disorder that affects the placenta. Representative examples include chorioamnionitis, hemangioma, and choriocarcinoma. C35169 Pregnancy Disorder C90259 NICHD Terminology C26858 Placenta Previa Placenta Previa A condition in which the placenta covers or is within 1 cm of the cervical os. A condition in which the placenta covers or is within 1 cm of the cervical os. C26857 Placental Disorder C34941 Pregnancy Complication C90259 NICHD Terminology C26860 Pleuritis Pleuritis Pleurisy Inflammation of the pleura. It is usually caused by infections. Chest pain while breathing or coughing is the presenting symptom. Inflammation of the pleura. C26871 Respiratory System Disorder C90259 NICHD Terminology C26862 Stein-Leventhal Syndrome Polycystic Ovary Syndrome PCOS || Stein-Leventhal Syndrome A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity. A condition of unknown or heterogenous genetic etiology that is characterized by hyperandrogenism and ovarian dysfunction, though the clinical features of the condition may differ between teenage girls and adult women. For teenage girls, the characteristic features generally manifest as persistent, otherwise unexplained hyperandrogenism and reduced or absent ovulation with associated menstrual irregularity, as determined by age- and pubertal stage-appropriate criteria. Additional clinical manifestations include some or all of the following: obesity, insulin resistance/hyperinsulinemia or frank type 2 diabetes mellitus, acanthosis nigricans, hirsutism, and polycystic ovary on ultrasound. C28193 Syndrome C90259 NICHD Terminology C26863 Polycythemia Polycythemia Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume. Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume. C36292 Laboratory Test Result C90259 NICHD Terminology C26866 Prostatitis Prostatitis An infectious or non-infectious inflammatory process affecting the prostate gland. An inflammatory process affecting the prostate gland. C27019 Male Reproductive System Disorder C90259 NICHD Terminology C26868 Pulmonary Edema Pulmonary Edema Accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. It is caused by direct injury to the lung parenchyma or congestive heart failure. The symptoms may appear suddenly or gradually. Suddenly appearing symptoms include difficulty breathing, feeling of suffocation, and coughing associated with frothy sputum. Gradually appearing symptoms include difficulty breathing while lying in bed, shortness of breath during activity, and weight gain (in patients with congestive heart failure). The accumulation of fluid in the lung parenchyma. C45233 Respiratory System Finding C90259 NICHD Terminology C26869 Pulmonary Fibrosis Pulmonary Fibrosis Pulmonary Interstitial Fibrosis Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause). A interstitial lung disease characterized by the replacement of lung tissue with connective tissue. C26871 Respiratory System Disorder C90259 NICHD Terminology C26871 Respiratory System Disorder Respiratory System Disorder Disorder of Respiratory System A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma. C2991 Disease or Disorder C90259 NICHD Terminology C26872 Respiratory Failure Respiratory Failure The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function. The significant impairment of gas exchange resulting in hypoxia and/or hypercarbia, to the extent that tissue oxygenation is severely compromised. C26871 Respiratory System Disorder C90259 NICHD Terminology C26874 Retinal Detachment Retinal Detachment An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision. Separation of neurosensory retina from the retinal pigment epithelium. C26875 Retinal Disorder C90259 NICHD Terminology C26875 Retinal Disorder Retinal Disorder An abnormal structure or function of the retina and its associated tissues. C26767 Eye Disorder C90259 NICHD Terminology C26878 Rickets Rickets Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities. A disorder of defective chondrocyte differentiation and mineralization of the epiphyseal plate due to deficiency of calcium, phosphate, or vitamin D. Rickets can manifest clinically with features such as craniotabes, costrochondral junction enlargement, widening of the wrists and ankles, lower extremity bowing, and failure to thrive. This condition is diagnosed radiographically, and is characterized by growth plate widening as well as metaphyseal cupping and fraying. C26836 Nutritional Disorder C90259 NICHD Terminology C26883 Sjogren Syndrome Sjogren Syndrome Sjogren's Syndrome An autoimmune disorder affecting the salivary and lacrimal glands. Morphologically, it is characterized by the presence of lymphocytic and plasmacytic infiltrates which cause destruction of these glands. It results in dry mouth and dry eyes. It may be associated with the presence of other autoimmune disorders, including rheumatoid arthritis and lupus erythematosus. Autoimmune epithelial inflammation often affecting the salivary and lacrimal glands (causing dry mouth and dry eyes) with potential extraglandular manifestations. In children, it most commonly presents with recurrent parotitis. It may occur alone (primary) or in association with another autoimmune disease (secondary). C2889 Autoimmune Disease C90259 NICHD Terminology C26884 Sleep Apnea Sleep Apnea Cessation of breathing for short periods during sleep. It is classified as obstructive, central, or mixed obstructive-central. It can occur at any age but it is more frequent in people over forty. Risk factors include male sex and obesity. The cessation of breathing for periods of time during sleep. C26698 Apnea C90259 NICHD Terminology C26885 Testicular Torsion Testicular Torsion An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue. C27019 Male Reproductive System Disorder C26786 Gonadal Disorder C90259 NICHD Terminology C26887 Stomatitis Stomatitis Oral Mucositis Inflammation of the oral mucosa due to local or systemic factors. Inflammation of the oral mucous membranes. C3371 Skin Disorder C90259 NICHD Terminology C26890 Testicular Disorder Testicular Disorder A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia. C26786 Gonadal Disorder C90259 NICHD Terminology C26891 Thrombosis Thrombosis The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury. Formation of a blood clot within a blood vessel or the heart. C35117 Vascular Disorder C90259 NICHD Terminology C26894 Thyroiditis Thyroiditis Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis. Inflammation of the thyroid gland. C3009 Endocrine System Disorder C90259 NICHD Terminology C26900 Turner Syndrome Turner Syndrome 45,X Gonadal Dysgenesis || 45X Syndrome || Bonnevie-Ullrich Syndrome || Monosomy X || Ullrich-Turner Syndrome A gonadal dysgenesis syndrome occurring in phenotypic females, characterized by the absence of a part or all of one of the sex chromosomes. Signs and symptoms include short stature, webbing of neck, low-set ears, hypogonadism, and sterility. A condition caused by absence of part or all of the second sex chromosome in an individual with female phenotype, resulting in a variable constellation of physical and functional anomalies. Characteristic clinical features may include, but are not limited to, short stature, premature ovarian failure, cardiac anomalies, renal anomalies, skeletal variations, and hearing impairment. C2950 Chromosomal Abnormality C90259 NICHD Terminology 45,X0 Syndrome C26901 Erythema Erythema Redness Red discoloration of the skin caused by infectious agents, inflammation, drug hypersensitivity, or underlying disease. Red discoloration of the skin caused by infectious agents, inflammation, drug hypersensitivity, or underlying disease. C100104 Sign or Symptom C90259 NICHD Terminology C26904 Urethritis Urethritis Inflammation of the urethra. Inflammation of the urethra. C3430 Urinary System Disorder C90259 NICHD Terminology C26906 Urinary Frequency Urinary Frequency Urination at short intervals; it may result from increased urine formation, decreased bladder capacity, or lower urinary tract irritation. Urination occurring more often than normal. C100104 Sign or Symptom C90259 NICHD Terminology C26909 Uveitis Uveitis An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision. Inflammation of the iris, ciliary body, and/or choroid (uveal tract). C26767 Eye Disorder C90259 NICHD Terminology C26911 Vaginitis Vaginitis A non-infectious or infectious inflammatory process affecting the vagina. Inflammation of the vagina. C27020 Female Reproductive System Disorder C90259 NICHD Terminology C26912 Vasculitis Vasculitis An inflammatory process involving the wall of the vessels (large, medium, or small-sized vessels). The inflammatory process may cause necrosis or formation of granulomas in the vascular wall. It may be the result of an autoimmune disorder, infection, or malignancy. Representative examples include polyarteritis nodosa, temporal arteritis, Wegener granulomatosis, Kawasaki disease, Takayasu arteritis, and Henoch-Schonlein purpura. An inflammatory process involving the wall of either arteries or veins, often classified by vessel size (large, medium, or small). The characteristic histopathology reveals inflammatory cells within the vessel wall accompanied by fibrinoid necrosis. Vasculitis may be the result of an autoimmune disorder, infection, or malignancy. C2889 Autoimmune Disease C90259 NICHD Terminology C26913 Verruca Plantaris Verruca Plantaris Plantar Wart A wart in the plantar surface of the foot. It is caused by human papillomavirus. A common wart on the plantar surface of the foot. C5028 Wart C90259 NICHD Terminology C26915 Vitiligo Vitiligo Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes. Generalized well circumscribed patches of leukoderma that is generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes. C3371 Skin Disorder C90259 NICHD Terminology C26917 Xerostomia Xerostomia Dry Mouth Dryness of the oral mucosa secondary to a decrease in saliva production, or a change in saliva composition. Dryness of the oral mucosa. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C26918 HIV-Associated Nephropathy HIV-associated Nephropathy HIV Nephropathy || HIVAN Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings. Kidney disease associated with HIV infection. C34843 Nephropathy C90259 NICHD Terminology C26920 Encephalopathy Encephalopathy A functional and/or structural disorder of the brain caused by diseases (e.g. liver disease, kidney disease), medications, chemicals, and injuries. Diffuse disease of the brain that alters function and/or structure of the brain and is characterized by an altered mental state. C96413 Brain Disorder C90259 NICHD Terminology C26924 Ventricular Arrhythmia Ventricular Arrhythmia A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles. C2881 Arrhythmia C90259 NICHD Terminology C26925 Polymyositis Polymyositis An idiopathic inflammatory disorder affecting the muscles. It presents with symmetrical proximal muscle weakness and elevated skeletal muscle enzymes. An inflammatory disorder affecting the muscles. It presents with symmetrical proximal muscle weakness. Complications include distal weakness, thickening skin of hands and interstitial lung disease. Juvenile polymyositis is a rare early onset form of the disease. C27578 Myositis C90259 NICHD Terminology C26927 Hydroureter Hydroureter Dilatation of the ureter caused by obstruction of urine flow. Dilation of the ureter. C3675 Obstructive Uropathy C90259 NICHD Terminology C26938 Fibula Fracture Fibula Fracture Fracture of Fibula A traumatic or pathologic injury to the femur in which the continuity of the fibula is broken. C3046 Fracture C90259 NICHD Terminology C26940 Chronic Pain Chronic Pain Ongoing or recurrent pain that persists beyond that which is expected following acute injury, usually 3 months or more. A longstanding unpleasant sensation. C3303 Pain C90259 NICHD Terminology C26946 Hepatocellular Damage Hepatocellular Liver Injury Disruption of hepatocyte function due to liver injury. Perturbation of hepatocyte function due to liver injury. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C26974 Mixed Hearing Loss Mixed Hearing Loss Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear. A combination of conductive and sensorineural hearing loss. C35731 Hearing Loss C90259 NICHD Terminology C26996 Polyarticular Arthritis Polyarticular Arthritis Polyarthritis An arthritis affecting five or more separate joints. An arthritis affecting five or more separate joints. C2883 Arthritis C90259 NICHD Terminology C26997 Hypertrophic Scar Hypertrophic Scar A permanent mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It is elevated and does not extend beyond the original boundaries of the wound; the elevation may stabilize or regress spontaneously. A permanent mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It is elevated and does not extend beyond the original boundaries of the wound; the elevation may stabilize or regress spontaneously. C36281 Integumentary System Finding C90259 NICHD Terminology C27009 Myalgia Myalgia Muscle Pain Painful sensation originating from a muscle or group of muscles. Pain localized to muscle tissue. C3303 Pain C90259 NICHD Terminology C2701 Therapeutic Immune Globulin Immune Globulin Gamma Globulin A preparation of plasma proteins derived from the pooled plasma of adult donors. Largely comprised of IgG antibodies, therapeutic immune globulin provides passive immunization by increasing the recipient's serum levels of circulating antibodies. IgG antibodies have multiple functions, including binding to and neutralizing bacterial toxins; opsonization of pathogens; activation of complement; and suppression of pathogenic cytokines and phagocytes through binding to CD5, interleukin-1a (IL-1a), interleukin 6 (IL-6), tumor necrosis factor-alpha (TNF-alpha), and T-cell receptors. Therapeutic immune globulin may diminish pathogenic mechanisms in some autoimmune diseases by binding to and inhibiting the activity of autoantibodies. (NCI04) A blood product derived from pooled IgG antibodies extracted from donor plasma delivered parenterally. It is used to treat multiple disorders, including immunodeficiencies, autoimmune disorders, and active infections. C1909 Pharmacologic Substance C90259 NICHD Terminology C27019 Male Reproductive System Disorder Male Reproductive System Disorder Disorder of Male Reproductive System A non-neoplastic or neoplastic disorder that affects the male genital system. Representative examples of non-neoplastic disorders include infection, testicular torsion, and undescended testis. Representative examples of neoplastic disorders include germ cell tumors, carcinoma, lymphoma, and sarcoma. C4875 Reproductive System Disorder C90259 NICHD Terminology C27020 Female Reproductive System Disorder Female Reproductive System Disorder A non-neoplastic or neoplastic disorder that affects the female genital system. Representative examples of non-neoplastic disorders include infection, endometriosis, and adenomyosis. Representative examples of neoplastic disorders include germ cell tumors, carcinoma, lymphoma, and sarcoma. C4875 Reproductive System Disorder C90259 NICHD Terminology C27027 Candida Esophagitis Esophageal Candidiasis Esophagitis resulting from Candida. Candidiasis of the esophagus. C26711 Candidiasis C90259 NICHD Terminology C27043 Acute Respiratory Failure Acute Respiratory Failure Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock. C26872 Respiratory Failure C90259 NICHD Terminology C27069 Polycythemia Neonatorum Neonatal Polycythemia Polycythemia Neonatorum || Polycythemia of the Newborn A condition in which the red blood cell level is greater than established reference ranges in a newborn. A condition in which the red blood cell level is greater than established reference ranges in a newborn. C26863 Polycythemia C90259 NICHD Terminology C27071 Transient Hypogammaglobulinemia of Infancy Transient Hypogammaglobulinemia of Infancy A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span. Transitory decrease in the concentration of IgG below established reference ranges, in an infant or child less than 6 months of age. IgA and IgM concentrations may be decreased as well. C3507 Immune System Disorder C90259 NICHD Terminology C27079 Non-Gonococcal Urethritis Non-Gonococcal Urethritis NGU Inflammation of the urethra secondary to infection with any bacteria other than Neisseria gonorrhoeae. Infectious urethritis that is not caused by Neisseria gonorrhoeae. C26904 Urethritis C90259 NICHD Terminology C27081 Juvenile Pilocytic Astrocytoma Juvenile Pilocytic Astrocytoma A pilocytic astrocytoma that occurs during adolescence. A pilocytic astrocytoma that occurs during adolescence. C4048 Childhood Pilocytic Astrocytoma C90259 NICHD Terminology C27083 Blood Clot Thrombus Blood Clot An aggregation of blood factors, primarily platelets and fibrin with entrapment of cellular elements, frequently causing vascular obstruction at the point of its formation. An aggregation of platelets and fibrin within the cardiovascular system. C35117 Vascular Disorder C90259 NICHD Terminology C27087 Verruca Vulgaris Verruca Vulgaris Common Wart A wart caused by human papillomavirus. It can appear anywhere on the skin. A wart on the skin. C5028 Wart C90259 NICHD Terminology C27088 Hyperbilirubinemia Hyperbilirubinemia Abnormally high level of bilirubin in the blood. Excess bilirubin is associated with jaundice. Abnormally high level of bilirubin in the blood. C100104 Sign or Symptom C90259 NICHD Terminology C271 Antimalarial Agent Anti-Malarial Agent Anti-Malarial Drug Agents used to treat malaria, and are usually classified based on action against plasmodia at different stages in their life cycle in the human. A pharmaceutical agent that cures or prevents malaria. Certain anti-malarials, specifically chloroquine derivatives, have been used in the treatment of autoimmune disease. C1909 Pharmacologic Substance C90259 NICHD Terminology C27112 Congenital Thyroid Gland Aplasia Thyroid Agenesis Athyreosis Absence of the thyroid gland in a newborn. Absence of the thyroid gland. C3009 Endocrine System Disorder C90259 NICHD Terminology C27113 Congenital Thyroid Gland Hypoplasia Thyroid Hypoplasia Incomplete development of the thyroid gland in a newborn. Incomplete development of the thyroid gland. C3009 Endocrine System Disorder C90259 NICHD Terminology C27120 Electrolyte Disorder Electrolyte Disorder Disorder of Electrolytes A metabolic disorder that is characterized by electrolyte imbalances (e.g., hyperkalemia, hypokalemia, and hypercalcemia). C3235 Metabolic Disease C90259 NICHD Terminology C27123 Blurred Vision Blurred Vision Blurred vision is the loss of visual acuity (sharpness of vision) resulting in a loss of ability to see small details. (from MedlinePlus Medical Encyclopedia) Unclear or indistinct sight. C99208 Eye Finding C90259 NICHD Terminology C27146 Hemophilia A Hemophilia A Factor VIII Deficiency || Hereditary Factor VIII Deficiency || Hereditary Factor VIII Deficiency Disease An inherited deficiency of coagulation factor VIII characterized by the tendency to spontaneous or exaggerated post-traumatic hemorrhage. Inherited as an X-linked recessive disease, hemophilia A is the most common hemophilia, occurring in approximately 1 in 10,000 male births. An X-linked recessive deficiency of coagulation factor VIII characterized by a tendency to bleed. Hemophilia A, the most common type of hemophilia, occurs in approximately 1 in 4,000 to 1 in 5,000 live male births. C3093 Hemophilia C98942 Hereditary Coagulation Factor Deficiency C90259 NICHD Terminology C27148 Ureter Disorder Ureter Disorder A non-neoplastic or neoplastic disorder affecting the ureter. C3430 Urinary System Disorder C90259 NICHD Terminology C27153 Lupus Erythematosus Lupus Erythematosus Lupus An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus. An umbrella term referring to disease entities such as cutaneous, subacute cutaneous, discoid and systemic lupus erythematosus. C2889 Autoimmune Disease C90259 NICHD Terminology C27158 Supraventricular Arrhythmia by ECG Finding Supraventricular Arrhythmia An electrocardiographic finding of an arrhythmia originating in the atrium, AV node or AV junction. C2881 Arrhythmia C90259 NICHD Terminology C27165 Respiratory Distress Respiratory Distress A pathological increase in the effort and frequency of breathing movements. Increased work of breathing with tachypnea and retractions. C26871 Respiratory System Disorder C90259 NICHD Terminology C27179 Juvenile Rheumatoid Arthritis Juvenile Rheumatoid Arthritis (AQ) An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system. An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system. C2889 Autoimmune Disease C90259 NICHD Terminology JRA C27181 Placental Infarction Placental Infarct Interruption of the blood supply to a portion of the placenta, resulting in ischemic necrosis. A focus of necrotic placental parenchyma with associated findings depending on its duration. C26857 Placental Disorder C90259 NICHD Terminology C27191 Hashimoto Thyroiditis Hashimoto Thyroiditis Chronic Lymphocytic Thyroiditis || Hashimoto Disease || Hashimoto's Disease || Hashimoto's Thyroiditis || Lymphocytic Thyroiditis An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism. An autoimmune disorder characterized by inflammation and lymphocytic infiltration of the thyroid gland, sometimes associated with reduced thyroid function. C3009 Endocrine System Disorder C90259 NICHD Terminology C27194 Brachial Plexopathy Brachial Plexopathy A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand. A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand. C103231 Brachial Plexus Injury C90259 NICHD Terminology C27195 Acne Acne Acne Vulgaris An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin. An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin. C3371 Skin Disorder C90259 NICHD Terminology C27204 Rheumatologic Disorder Rheumatic Disease Collagen Vascular Disease || Rheumatologic Disorder Inflammatory and degenerative diseases of connective tissue structures, such as arthritis. An umbrella term used to encompass disorders characterized by autoimmunity, autoinflammatory processes, joint or connective tissue inflammation or degeneration. C2889 Autoimmune Disease C90259 NICHD Terminology Connective Tissue Disease || Inflammatory Rheumatism C27215 Coagulation Factor Deficiency Coagulation Factor Deficiency Coagulation Factor Deficiency Syndrome Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding. Congenital or acquired deficiency of one of the coagulation factors. C2902 Coagulation Disorder C90259 NICHD Terminology C27226 Androgen Insensitivity Syndrome Androgen Insensitivity Syndrome Androgen Resistance Syndrome A disorder of sexual development in persons with 46XY karyotype, characterized by an abnormality of the genes encoding androgen receptors. It results in a female sex appearance or the development of both male and female characteristics. Partial or complete resistance to androgenic hormones due to one or more mutations in the androgen receptor (AR) gene. C3101 Genetic Disorder C90259 NICHD Terminology C27228 Gonadal Agenesis Gonadal Agenesis A congenital disorder characterized by the complete absence of gonadal tissue. Congenital complete absence of the gonads. C26786 Gonadal Disorder C90259 NICHD Terminology C27298 Ptosis Ptosis The drooping of the upper eyelid. The drooping of the upper eyelid. C99208 Eye Finding C90259 NICHD Terminology C27343 Pituitary Gland Hypoplasia Pituitary Hypoplasia Pituitary Gland Hypoplasia Incomplete development of the pituitary gland. Incomplete development of the pituitary gland. C36285 Endocrine System Finding C90259 NICHD Terminology C27362 Childhood Ganglioglioma Childhood Ganglioglioma A ganglioglioma that arises from the central nervous system and occurs during childhood. A ganglioglioma that occurs during childhood. C5132 Childhood Central Nervous System Neoplasm C90259 NICHD Terminology C27364 Childhood Yolk Sac Tumor Childhood Yolk Sac Tumor A yolk sac tumor that occurs during childhood. A yolk sac tumor occurring in children. C123841 Childhood Non-Germinomatous Germ Cell Tumor C90259 NICHD Terminology C27371 Childhood Clear Cell Sarcoma of Soft Parts Childhood Clear Cell Sarcoma of Soft Tissue A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells affecting children. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases. A clear cell sarcoma of soft tissue occurring in children. C7715 Childhood Soft Tissue Sarcoma C90259 NICHD Terminology C27372 Childhood Desmoplastic Small Round Cell Tumor Childhood Desmoplastic Small Round Cell Tumor A desmoplastic small round cell tumor occurring in children. A desmoplastic small round cell tumor occurring in children. C7715 Childhood Soft Tissue Sarcoma C90259 NICHD Terminology C27374 Childhood Mesenchymal Chondrosarcoma Childhood Mesenchymal Chondrosarcoma A mesenchymal chondrosarcoma occurring in children. A mesenchymal chondrosarcoma occurring during childhood. C7715 Childhood Soft Tissue Sarcoma C90259 NICHD Terminology C27376 Childhood Extraskeletal Osteosarcoma Childhood Extraskeletal Osteosarcoma An osteosarcoma arising from the soft tissue, and occurring during childhood. An osteosarcoma arising in soft tissues, and occurring during childhood. C6585 Childhood Osteosarcoma C90259 NICHD Terminology C27377 Childhood Myxoid Chondrosarcoma Childhood Myxoid Chondrosarcoma A myxoid chondrosarcoma occurring in children. A myxoid chondrosarcoma occurring during childhood. C7715 Childhood Soft Tissue Sarcoma C90259 NICHD Terminology C27403 Childhood Central Nervous System Mixed Germ Cell Tumor Childhood Central Nervous System Mixed Germ Cell Tumor A mixed germ cell tumor that arises from the central nervous system and occurs during childhood. A mixed germ cell tumor that arises from the central nervous system during childhood. C6205 Childhood Central Nervous System Germ Cell Tumor C68632 Childhood Extragonadal Malignant Germ Cell Tumor C90259 NICHD Terminology C27404 Childhood Central Nervous System Mature Teratoma Childhood Central Nervous System Mature Teratoma A mature teratoma that arises from the central nervous system during childhood. A mature teratoma that arises from the central nervous system during childhood. C6204 Childhood Central Nervous System Teratoma C123836 Childhood Mature Teratoma C90259 NICHD Terminology C27405 Childhood Central Nervous System Immature Teratoma Childhood Central Nervous System Immature Teratoma An immature teratoma that arises from the central nervous system and occurs during childhood. An immature teratoma that arises from the central nervous system during childhood. C123834 Childhood Immature Teratoma C6204 Childhood Central Nervous System Teratoma C90259 NICHD Terminology C27406 Childhood Central Nervous System Germinoma Childhood Central Nervous System Germinoma A germinoma arising from the central nervous system during childhood. A germinoma that arises from the central nervous system during childhood. C123838 Childhood Germinomatous Germ Cell Tumor C68632 Childhood Extragonadal Malignant Germ Cell Tumor C90259 NICHD Terminology C27503 Angiomatosis Angiomatosis Multiple Hemangiomas A benign diffuse vascular proliferation usually occurring in young adults. It is characterized by the formation of capillary-sized and cavernous vascular spaces. Patients present with diffuse persistent swelling. C3085 Hemangioma C90259 NICHD Terminology C27560 Respiratory Distress Syndrome Respiratory Distress Syndrome Neonatal Respiratory Distress || Neonatal Respiratory Distress Syndrome || RDS || Respiratory Distress Syndrome in the Newborn A condition beginning in the first day of life that results from inadequate surfactant production, causing increased work of breathing and impaired gas exchange. Progressive alveolar atelectasis from birth due to an abnormality of synthesis, function or metabolism of surfactant, characterized by respiratory failure and an abnormal chest radiograph showing diffuse reticulogranular densities and air bronchograms. C97173 Congenital Respiratory System Disorder C99232 Neonatal Respiratory System Disorder C90259 NICHD Terminology C27576 Childhood Dermatomyositis Juvenile Dermatomyositis Childhood Dermatomyositis || JDM An inflammatory myopathy of childhood resulting in muscle weakness, and associated with a characteristic skin rash. An inflammatory myopathy of childhood resulting in symmetric proximal muscle weakness, and associated with characteristic cutaneous findings, such as heliotrope rash or Gottron's papules. C2889 Autoimmune Disease C90259 NICHD Terminology C27577 Osteomyelitis Osteomyelitis An acute or chronic inflammation of the bone and its structures due to infection with pyogenic bacteria. Inflammation of the bone, usually due to infection. C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C27578 Myositis Myositis An inflammatory process affecting the skeletal muscles. Causes include infections, injuries, and autoimmune disorders. Inflammation affecting the skeletal muscles. C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C27580 Peripheral Nervous System Disorder Peripheral Nervous System Disorder Disorder of Peripheral Nervous System || Peripheral Nerve Disease A non-neoplastic or neoplastic disorder that affects the peripheral nervous system. C26835 Nervous System Disorder C90259 NICHD Terminology C27582 Central Nervous System Infectious Disorder Central Nervous System Infectious Disease Infectious Disease of Central Nervous System An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis. C26726 Infectious Disorder C2934 Central Nervous System Disorder C90259 NICHD Terminology C276 Antiparasitic Agent Antiparasitic Any agent that is effective against infections caused by parasitic organisms and is able to inhibit their growth or kill them. This class consists of anthelmintics and antiprotozoals. Substances that kill or inhibit the growth or other functions of parasites, and that are used in the treatment of parasitic infections. C1909 Pharmacologic Substance C90259 NICHD Terminology C27644 Deafness Deafness An inherited or acquired condition characterized by the inability to hear in one or both ears. Inability to hear. C35731 Hearing Loss C90259 NICHD Terminology C27645 Conductive Hearing Loss Conductive Hearing Loss Hearing loss caused by impaired transmission of signals from the external auditory canal or middle ear to the cochlea. Hearing loss caused by impaired transmission of signals from the external auditory canal or middle ear to the cochlea. C35731 Hearing Loss C90259 NICHD Terminology C27724 Psoriasiform Dermatitis Psoriasiform Dermatitis A chronic, sporadic, acquired pruritic non-infectious skin condition characterized by one or more well defined inflamed (pink or red) patches or plaques of varying size. Any one of a number of inflammatory skin conditions that resemble psoriasis because of their papular and scaly appearance. C3371 Skin Disorder C90259 NICHD Terminology C27730 Childhood Kidney Wilms Tumor Childhood Wilms Tumor A Wilms tumor of the kidney which occurs in children. A Wilms tumor that occurs in children. C3267 Wilms Tumor C123907 Childhood Malignant Kidney Tumor C90259 NICHD Terminology C27864 Parasitic Infection Parasitic Infection Parasitic Disease A successful invasion of a host by an organism that uses the host for food and shelter. An infection caused by a parasite. C128320 Infection C90259 NICHD Terminology C27894 Carotenosis Cutis Carotenoderma Orange or yellow discoloration of the skin caused by excessive deposits of carotene. Orange or yellow discoloration of the skin caused by excessive deposits of carotene. C36281 Integumentary System Finding C90259 NICHD Terminology C27912 Therapy-Related Myeloid Neoplasm Therapy-Related Myeloid Neoplasm Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders. Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders. C3262 Neoplasm C90259 NICHD Terminology C27956 Infant Infant An age group comprised of individuals between one month and two years of age. C16423 Child C90259 NICHD Terminology C27996 Myocardial Infarction Myocardial Infarction Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis. Necrosis of the myocardium, as a result of interruption of the blood supply to the area. C25738 Infarct C3079 Heart Disorder C90259 NICHD Terminology C28000 Autologous Autologous Taken from an individual's own tissues, cells, or DNA. Taken from an individual's own tissues, cells, or DNA. C92722 Qualitative Concept C90259 NICHD Terminology C281 Antiviral Agent Antiviral Any agent that can treat or prevent viral infections by interfering with the viral replication cycle. Substances that kill or inhibit the growth or other functions of viruses, and that are used in the treatment of viral infections. C1909 Pharmacologic Substance C90259 NICHD Terminology C28129 Renal Tubular Acidosis Renal Tubular Acidosis The inability of the kidneys to maintain acid-base homeostasis. The inability of the kidneys to maintain acid-base homeostasis. C27120 Electrolyte Disorder C3149 Kidney Disease C90259 NICHD Terminology C28137 Oral Candidiasis Oral Candidiasis Thrush Infection of the mucosal lining of the mouth with the fungus Candida albicans. Infection of the mucosal lining of the mouth with the fungus Candida albicans. C26726 Infectious Disorder C90259 NICHD Terminology C28145 Dysgeusia Dysgeusia Persistence of unpleasant taste. Distortion of taste. C28246 Dysesthesia C90259 NICHD Terminology C28155 Horner Syndrome Horner Syndrome Interruption of sympathetic innervation to eye and face. Interruption of sympathetic nerve innervation to eye and face. C2934 Central Nervous System Disorder C90259 NICHD Terminology C28161 Intramuscular Route of Administration Intramuscular Route of Administration Intramuscular injection is a route of drug administration via injection into muscle tissue. Aqueous or oleaginous solutions and emulsions or suspensions may be administered. Absorption rates, delay in availability of the drug to the systemic circulation, and duration of effect are perfusion-limited, depend on molecular size of the agent, volume, and osmolarity of the drug solution, fat content of the injection site, and patient physical activity. C38291 Parenteral Route of Administration C90259 NICHD Terminology C28176 Parasite Parasite Parasites Any organism that has a close, symbiotic relationship with a separate, host organism. An organism that lives on or in a host organism, and that draws its nourishment from that host. C14250 Organism C90259 NICHD Terminology C28177 Paresthesia Paresthesia Abnormal cutaneous sensations of tingling, numbness, pressure, cold, and warmth that an individual experiences without the presence of a stimulus. It results from functional disturbances of sensory neurons. Causes include peripheral vascular disease, peripheral neuropathy, and nerve damage. Abnormal cutaneous sensations of tingling, numbness, pressure, cold, and/or warmth. C28246 Dysesthesia C90259 NICHD Terminology C28182 Rabies Rabies A life-threatening viral infection caused by the neurotropic Rabies virus. It is transmitted to humans usually from a bite by an infected dog. The initial signs and symptoms include malaise, fever, and headache, followed by the central nervous system manifestations which include abrupt behavioral changes. Paralysis, lethargy, and coma follow the behavioral changes. An infection that is caused by the neurotropic Rabies virus, which is most often transmitted to humans via a bite by an infected animal. C35803 Zoonotic Infection C3439 Viral Infection C90259 NICHD Terminology C28193 Syndrome Syndrome A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition. C2991 Disease or Disorder C90259 NICHD Terminology C28195 Thromboembolism Thromboembolism Occlusion of the lumen of a vessel by a thrombus that has migrated from a distal site via the blood stream. Occlusion of the lumen of a vessel by a thrombus. C35117 Vascular Disorder C90259 NICHD Terminology C28210 Photophobia Photophobia Ocular Photosensitivity Increased sensitivity of the eyes to light, which can result in the avoidance of light exposure. Increased reactivity of the eye to light exposure. C99208 Eye Finding C100104 Sign or Symptom C90259 NICHD Terminology C28228 Metabolic Acidosis Metabolic Acidosis Increased acidity in the blood secondary to acid base imbalance. Causes include diabetes, kidney failure and shock. Abnormally decreased pH levels in the blood due to excessive accumulation of acid or insufficient generation of base. C27120 Electrolyte Disorder C90259 NICHD Terminology C28246 Dysesthesia Dysesthesia Distortion of a sense resulting in an abnormal and unpleasant sensation, usually described as burning, tingling, or numbness. Causes include lesions of the nervous system. Distortion of any sense. C3367 Finding C90259 NICHD Terminology C28266 Mold Filamentous Fungus Mold A very large group of microscopic fungi that live on plant or animal matter. Most are filamentous organisms and produce spores that can be air-, water-, or insect-borne. A multicellular fungus that produces filaments and hyphae. C14209 Fungus C90259 NICHD Terminology C28286 Insomnia Insomnia A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep. Difficulty in falling asleep and/or remaining asleep. C3376 Sleep Disorder C100104 Sign or Symptom C90259 NICHD Terminology C28294 Nutrition Nutrition That which is consumed to fuel necessary life processes of an organism. C45306 Substance C90259 NICHD Terminology C28343 Allogeneic Allogeneic Taken from different individuals of the same species. Taken from different individuals of the same species. C92722 Qualitative Concept C90259 NICHD Terminology C28397 Asthma Asthma A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways. A chronic respiratory disease caused by obstruction of the bronchi and small airways, and characterized by wheezing and shortness of breath. C26871 Respiratory System Disorder C90259 NICHD Terminology C28421 Sex Sex The assemblage of physical properties or qualities by which male is distinguished from female; the physical difference between male and female; the distinguishing peculiarity of male or female. C25447 Characteristic C90259 NICHD Terminology C2848 Polyvalent Vaccine Polyvalent Vaccine A vaccine designed to elicit an immune response either to more than one infectious agent or to several different antigenic determinants of a single agent. C923 Vaccine C90259 NICHD Terminology C2849 Congenital Abnormality Congenital Malformation Congenital Abnormality || Congenital Anomalies of Fetus || Congenital Deformity Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. A morphologic defect of an organ, part of an organ, or larger region of the body that results from an intrinsically abnormal developmental process during gestation. C36287 Congenital or Acquired Anatomic Abnormality C89328 Pediatric Disorder C90259 NICHD Terminology C2851 Acquired Immunodeficiency Syndrome Acquired Immunodeficiency Disease AIDS || Acquired Immunodeficiency Syndrome A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood. A chronic, potentially life threatening condition that is caused by human immunodeficiency virus (HIV) infection, and is characterized by increased susceptibility to opportunistic infections, certain cancers and neurologic disorders. C9229 Systemic Disorder C90259 NICHD Terminology C28554 Dead Death The cessation of life. The cessation of life. C100104 Sign or Symptom C90259 NICHD Terminology C2867 Amnesia Amnesia Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories. Loss of memory. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C2869 Anemia Anemia A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability. Abnormally low level of hemoglobin in the blood. C26323 Hematologic Disorder C90259 NICHD Terminology C2870 Aplastic Anemia Aplastic Anemia Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors. A syndrome of bone marrow failure characterized by peripheral pancytopenia and marrow hypoplasia. C2869 Anemia C90259 NICHD Terminology C2871 Pernicious Anemia Pernicious Anemia Intrinsic Factor Deficiency Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells. Megaloblastic anemia caused by vitamin B12 deficiency due to insufficient production of intrinsic factor by gastric parietal cells, which is essential for adequate absorption of vitamin B12. It is classically characterized by weakness and fatigue, glossitis, and paresthesias. C34382 Megaloblastic Anemia C90259 NICHD Terminology C2875 Anorexia Anorexia Loss of appetite. Loss of appetite. C100104 Sign or Symptom C90259 NICHD Terminology C2876 Anoxia Anoxia Absence or reduction of oxygen in body tissue. The absence of oxygen delivery to body tissue. C45233 Respiratory System Finding C90259 NICHD Terminology C2878 Anxiety Disorder Anxiety Disorder A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety. C2893 Psychiatric Disorder C90259 NICHD Terminology C2880 Ovarian Sertoli-Leydig Cell Tumor Ovarian Sertoli-Leydig Cell Tumor A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8. A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. It may be associated with trisomy 8. C39966 Ovarian Sertoli-Stromal Tumor C90259 NICHD Terminology C2881 Arrhythmia Arrhythmia Cardiac Arrhythmia Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart. Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart. C78245 Cardiac Conduction Disorder C90259 NICHD Terminology C2882 Arteriovenous Hemangioma/Malformation Arteriovenous Hemangioma A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures. C3085 Hemangioma C90259 NICHD Terminology C2883 Arthritis Arthritis An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain. Inflammation of the joint tissues of any etiology. Signs and symptoms may include pain, swelling, warmth, guarding, limited range of motion or overlying erythema. C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C2884 Rheumatoid Arthritis Rheumatoid Arthritis RA A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor. A chronic, inflammatory condition manifesting primarily as a symmetric, erosive, polyarthritis that spares the axial skeleton and is typically associated with rheumatoid factor and anti-citrullinated protein antibodies. C2883 Arthritis C90259 NICHD Terminology C2885 Ascites Ascites The accumulation of fluid in the peritoneal cavity, which may be serous, hemorrhagic, or the result of tumor metastasis to the peritoneum. The accumulation of fluid in the peritoneal cavity, which may be serous, hemorrhagic, or the result of tumor metastasis to the peritoneum. C100104 Sign or Symptom C90259 NICHD Terminology C2886 Aspergillosis Aspergillosis An infection that is caused by Aspergillus. A group of diseases which result from an infection with, or allergic response to the fungus Aspergillus. C26726 Infectious Disorder C90259 NICHD Terminology C2888 Atelectasis Atelectasis The collapse of part or the entire lung due to airway obstruction, infection, tumor, or general anesthesia. The collapse of alveoli and small airways. C26871 Respiratory System Disorder C90259 NICHD Terminology C2889 Autoimmune Disease Autoimmune Disease Autoimmune Disorder A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to his own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis). A disorder that may result in abnormality, impaired function or damage of one or more organs or tissues, arising from autoreactive humoral or cellular immune responses. C3507 Immune System Disorder C90259 NICHD Terminology C2890 Bacterial Infection Bacterial Infection Bacterial Disease An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections. An infection caused by a bacterium. C128320 Infection C90259 NICHD Terminology C2893 Psychiatric Disorder Psychiatric Disorder A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia. C96413 Brain Disorder C90259 NICHD Terminology C2900 Bladder Disorder Bladder Disorder A non-neoplastic or neoplastic disorder affecting the urinary bladder. A representative example of non-neoplastic bladder disorder is bacterial bladder infection. A representative example of neoplastic bladder disorder is bladder carcinoma. C3430 Urinary System Disorder C90259 NICHD Terminology C2902 Coagulation Disorder Coagulation Disorder Coagulation Defect || Coagulopathy A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. A condition of abnormal blood clotting or bleeding. C2931 Cardiovascular Disorder C26323 Hematologic Disorder C90259 NICHD Terminology C2907 Brain Neoplasm Brain Tumor A benign or malignant neoplasm that arises from or metastasizes to the brain. An abnormal intracranial solid mass or growth. C3268 Nervous System Neoplasm C90259 NICHD Terminology C29090 Hepatitis A Vaccine Hepatitis A Vaccine An inactivated virus vaccine that provides active immunization against hepatitis A virus (HAV). Immunization with hepatitis A vaccine induces the formation of anti-HAV antibodies which provide protection against hepatitis A infection. C29694 Inactivated Vaccine C90259 NICHD Terminology C29091 Hepatitis B Vaccine Hepatitis B Vaccine Recombinant Hepatitis B Vaccine A non-infectious mixture containing recombinant hepatitis B surface antigen (HBsAg) in a liquid vehicle. Immunization with the hepatitis B vaccine induces the formation of specific anti-hepatitis B antibodies and an active immunity against hepatitis B infection. C1572 Recombinant Viral Vaccine C90259 NICHD Terminology C2911 Bronchitis Bronchitis An acute or chronic inflammatory process affecting the bronchi. Inflammation of the bronchi. C3198 Lung Disorder C90259 NICHD Terminology C2914 Vulvovaginal Candidiasis Vulvovaginal Candidiasis Vaginal Candidiasis Infection of the vulva and vagina with a fungus of the genus CANDIDA. It is a disease associated with HIV infection. Candidiasis of the vulva and/or vagina. C27020 Female Reproductive System Disorder C26711 Candidiasis C90259 NICHD Terminology C2930 Transitional Cell Carcinoma Transitional Cell Carcinoma A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries. A malignant neoplasm arising from transitional epithelium. C9305 Cancer C90259 NICHD Terminology C2931 Cardiovascular Disorder Cardiovascular Disorder Disorder of Cardiovascular System A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma. C2991 Disease or Disorder C90259 NICHD Terminology C29329 Purified Protein Derivative Purified Protein Derivative PPD A purified protein extract derived from the bacterium Mycobacterium tuberculosis. Intradermally-administered, PPD stimulates preprimed CD4 T cells in immunologically competent subjects previously exposed to the bacterium Mycobacterium tuberculosis; these activated CD4 T cells secrete various cytokines that attract granulocytes, monocytes, and macrophages in an inflammatory response known as delayed hypersensitivity. (NCI04) An extract derived from the supernatant of a culture of Mycobacterium tuberculosis grown under standardized conditions that is used in the tuberculin skin test. C1909 Pharmacologic Substance C90259 NICHD Terminology C2934 Central Nervous System Disorder Central Nervous System Disorder Disorder of Central Nervous System A non-neoplastic or neoplastic disorder which affects the brain and/or spinal cord. C26835 Nervous System Disorder C90259 NICHD Terminology C2936 Cerebral Arteriovenous Malformation Cerebral Arteriovenous Malformation An abnormal connection between arteries and veins characterized by the absence of intervening capillaries in the brain. Signs and symptoms include headaches, bruit upon head examination, seizures, and bleeding. When bleeding occurs, the signs and symptoms are similar to those in stroke. C35729 Congenital Cardiovascular Abnormality C90259 NICHD Terminology C2938 Cerebrovascular Disorder Cerebrovascular Disease A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction. C35117 Vascular Disorder C90259 NICHD Terminology C2941 Chediak-Higashi Syndrome Chediak-Higashi Syndrome A rare autosomal recessive immunodeficiency disorder characterized by abnormal intracellular protein transport. Chediak-Higashi syndrome (CHS) is characterized by immune deficiency; partial oculocutaneous albinism; a bleeding disorder due to deficient platelet dense bodies; neutropenia; neutrophils with impaired chemotaxis and bactericidal activity; recurrent infection; and abnormal natural killer (NK) cell function. CHS may be associated with hepatosplenomegaly, lymphadenopathy, anemia, thrombocytopenia, roentgenologic changes in bones, lungs and heart, and skin and psychomotor abnormalities; it is often fatal in childhood as a result of infection or an accelerated lymphoma-like phase. CHS occurs in mink, cattle, and mice, as well as man. An autosomal recessive syndrome characterized by immune deficiency, partial oculocutaneous albinism, a bleeding disorder due to deficient platelet dense bodies, neutropenia, neutrophils with impaired chemotaxis and bactericidal activity, recurrent infection, and abnormal natural killer (NK) cell function. C3507 Immune System Disorder C90259 NICHD Terminology C2943 Choledochal Cyst Choledochal Cyst Cystic dilatation of the hepatic duct or bile duct. C2978 Cyst C2990 Gastrointestinal Disorder C90259 NICHD Terminology C2950 Cytogenetic Abnormality Chromosomal Abnormality Chromosome Abnormality An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material. C3101 Genetic Disorder C90259 NICHD Terminology C2951 Cirrhosis Cirrhosis Liver Cirrhosis A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy. A chronic degenerative disease of the liver characterized by parenchymal nodularity and fibrosis. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C2952 Ulcerative Colitis Ulcerative Colitis Colitis Ulcerative An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage. A chronic inflammatory disease affecting the mucosal surface of the colon and rectum. C26723 Colitis C90259 NICHD Terminology C2959 Complication Complication Any disease or disorder that occurs during the course of, or because of, another disease, treatment, or procedure. C3367 Finding C90259 NICHD Terminology C2960 Condyloma Acuminatum Condyloma Acuminatum Condyloma Acuminata || Genital Wart || Genital Warts A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia. A wart of the perianal region or genitalia that is caused by sexual transmission of the human papillomavirus. C3439 Viral Infection C90259 NICHD Terminology C2962 Seizure Seizure Convulsion Sudden, involuntary skeletal muscular contractions of cerebral or brain stem origin. A paroxysmal surge of electrical activity in the brain that may result in physical or behavioral changes. C87124 Central Nervous System Signs and Symptoms C90259 NICHD Terminology C2964 Craniopharyngioma Craniopharyngioma A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO) A histologically benign, but locally destructive, partly cystic, epithelial tumor of the sellar region, derived from Rathke pouch epithelium. C2934 Central Nervous System Disorder C90259 NICHD Terminology C2965 Crohn Disease Crohn's Disease A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement. A chronic, transmural inflammation that can affect any location along the gastrointestinal tract. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C2967 Cryptococcosis Cryptococcosis An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004 An infection that is caused by Cryptococcus neoformans, and in some geographic areas by Cryptococcus gattii, which can be either acute or chronic, and either localized or disseminated; it typically involves the lungs, though disseminated disease can occur. C3245 Fungal Infection C90259 NICHD Terminology C2969 Cushing Syndrome Cushing Syndrome Cortisol Excess || Cushing's Syndrome || Hypercortisolism A syndrome caused by high levels of cortisol in the blood either due to excessive production and secretion of corticosteroids secondary to pituitary or adrenocortical neoplasms, or intake of glucocorticoid drugs. Signs and symptoms include a round face, upper body obesity, fragile and thin skin, purple stretch marks in the skin, fatigue, muscle weakness, hypertension, diabetes mellitus, hypertrichosis and amenorrhea in women, impotence in men, and osteoporosis. A clinical condition characterized by variable degrees of central obesity, rounding of the face ("moon" face), hypertension, striae, and a number of other physical findings, as a result of prolonged exposure to supranormal cortisol concentration of any etiology. C3009 Endocrine System Disorder C90259 NICHD Terminology C29694 Inactivated Vaccine Inactivated Vaccine A preparation of killed microorganisms that is intended to prevent or treat an infectious disease by inducing active immunity to the causative microorganism. C923 Vaccine C90259 NICHD Terminology C29702 Histamine-2 Receptor Antagonist Histamine-2 Receptor Antagonist H2 Blocker Any agent that competitively binds to and blocks the histamine H2 receptors found in the stomach, heart, uterus, on vascular smooth muscle and in the central nervous system (CNS). Of particular clinical relevance is the blockage of H2 receptors found on the parietal cells of the stomach, which prevents gastric acid secretion. A pharmaceutical agent that blocks the binding of histamine to the type II histamine receptor, and is often used to decrease gastric acid production and to treat urticaria. C1909 Pharmacologic Substance C90259 NICHD Terminology C29719 Tobacco Smoking History Smoking History A record of an individual's background in regard to smoking tobacco. This would include such factors as start date, end date (if applicable), number of cigarette smoked, attempts to quit, and others. C18772 Personal Medical History C90259 NICHD Terminology C29723 Proton Pump Inhibitor Proton Pump Inhibitor PPI Any one of the substituted benzimidazole compounds with anti-ulcer activity. A proton pump inhibitor is orally administered in the neutrally charged, inactive form and, upon entering the acidic environment of the parietal cell, gets protonated and converted into its active form. The active form will covalently and irreversibly bind to the proton pump, the H+/K+-ATPase, located on the surface of parietal cells. This leads to an inhibition of the transport of hydrogen ions, in exchange for potassium ions, into the gastric lumen and results in an inhibition of gastric acid secretion. A pharmaceutical agent that inhibits the transport of hydrogen ions, in exchange for potassium ions, into the gastric lumen and results in an inhibition of gastric acid secretion. These drugs are used for their anti-ulcer activity. C1909 Pharmacologic Substance C90259 NICHD Terminology C2975 Cystic Fibrosis Cystic Fibrosis A congenital, autosomal, metabolic disorder affecting the exocrine glands. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production that causes obstruction of passageways, including pancreatic and bile ducts, intestines, and bronchi. Symptoms usually appear in childhood, and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather secondary to increased sodium and chloride concentration in sweat. A congenital, autosomal, metabolic disorder affecting the exocrine glands. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production that causes obstruction of passageways, including pancreatic and bile ducts, intestines, and bronchi. Symptoms usually appear in childhood, and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather secondary to increased sodium and chloride concentration in sweat. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C2978 Cyst Cyst A sac-like closed membranous structure that may be empty or contain fluid or amorphous material. C36287 Congenital or Acquired Anatomic Abnormality C90259 NICHD Terminology C298 BCG Vaccine Bacillus Calmette-Guérin Vaccine BCG Vaccine A vaccine containing bacillus Calmette-Guerin (BCG), an attenuated strain of Mycobacterium bovis, with non-specific immunoadjuvant and immunotherapeutic activities. Although the mechanism of its anti-tumor activity is unclear, immunization with BCG vaccine likely activates a Th1 cytokine response that includes the induction of interferon. Vaccination with BCG vaccine may be immunoprotective against infection with Mycobacterium tuberculosis. A tuberculosis vaccine containing bacillus Calmette-Guérin, a live attenuated strain of Mycobacterium bovis. There are many different strains of BCG vaccine, all of which were originally derived from one strain, but which now have very different properties. C97116 Attenuated Live Vaccine C90259 NICHD Terminology C2980 Dysphagia Dysphagia Difficulty Swallowing A symptom referring to difficulty in swallowing. It may be observed in patients with stroke, motor neuron disorders, cancer of the throat or mouth, head and neck injuries, Parkinson disease, and multiple sclerosis. Difficulty in swallowing. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C2981 Delirium Delirium A usually reversible condition characterized by the acute and sudden development of confusion, illusions, movement changes, inattentiveness, agitation, and hallucinations. Causes include drug abuse, poisoning, infectious processes, and fluid and electrolyte imbalance. A mental state, characterized by fluctuations in orientation, concentration and ability to think clearly. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C2985 Diabetes Mellitus Diabetes Mellitus A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization. A metabolic condition, characterized by hyperglycemia, caused by insufficient secretion of insulin by the pancreas and/or decreased insulin action in target tissues. C3009 Endocrine System Disorder C90259 NICHD Terminology C2986 Type 1 Diabetes Mellitus Type 1 Diabetes Mellitus Immune Mediated Diabetes || Insulin Dependent Diabetes || Juvenile Diabetes || Type 1 Diabetes || Type I Diabetes A chronic condition characterized by minimal or absent production of insulin by the pancreas. Diabetes mellitus caused by cell-mediated autoimmune destruction of pancreatic beta cells. C2985 Diabetes Mellitus C90259 NICHD Terminology Insulin Dependent Diabetes || Type I Diabetes C2987 Diarrhea Diarrhea Frequent Stools || Loose Stools Watery bowel movements. Watery bowel movements. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C29888 Mumps Mumps Epidemic Parotitis A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease. A contagious infection that is caused by the mumps virus; it is characterized by swollen and tender parotid glands. C96411 Pediatric Viral Infection C90259 NICHD Terminology C2989 22q11.2 Deletion Syndrome 22q Deletion Syndrome(s) DGS1 || DiGeorge Sequence || DiGeorge Syndrome || DiGeorge Syndrome Type 1 || Shprintzen Syndrome A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly. A group of phenotypically variable, mostly sporadic conditions caused by 1.5- to 3.0-Mb hemizygous deletions of chromosome 22q11.2. Haploinsufficiency of the TBX1 gene encoding the transcription factor T-box 1 is believed responsible for most of the physical findings. Clinical features may include cardiac anomalies, including truncus arteriosus and tetralogy of Fallot, as well as other anomalies, including micrognathia, thymic aplasia (with resultant immunodeficiency), cleft palate, and hypoparathyroidism. C3101 Genetic Disorder C90259 NICHD Terminology C2990 Digestive System Disorder Gastrointestinal Disorder Digestive System Disorder || Disorder of Digestive System A non-neoplastic or neoplastic disorder that affects the gastrointestinal tract, anus, liver, biliary system, and pancreas. C2991 Disease or Disorder C90259 NICHD Terminology C2991 Disease or Disorder Disease or Disorder Disease Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function. C90259 NICHD Terminology C90259 NICHD Terminology C2992 Disseminated Intravascular Coagulation Disseminated Intravascular Coagulation DIC A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage. Excessive activation of the body's coagulation system resulting in systemic microvascular thrombi formation. C131658 Consumptive Coagulopathy C2902 Coagulation Disorder C90259 NICHD Terminology C2993 Down Syndrome Trisomy 21 Down Syndrome A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome. A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. This condition is characterized by distinctive facial and physical features: short stature, developmental delay, cardiac defects (atrioventricular septal defect, tetralogy of Fallot), hypo- and hyperthyroidism, autoimmune disease (type 1 diabetes mellitus), and hypogonadism. C2950 Chromosomal Abnormality C90259 NICHD Terminology C2996 Dysgerminoma Dysgerminoma A malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population. The neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei. The aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly T-lymphocytes. It arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system. It responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage. A seminomatous germ cell tumor originating in the ovary. C3708 Germ Cell Tumor C90259 NICHD Terminology C2998 Dyspnea Dyspnea An uncomfortable sensation of difficulty breathing. It may present as an acute or chronic sign of an underlying respiratory or heart disorder. A sensation of discomfort with breathing. C100104 Sign or Symptom C90259 NICHD Terminology C2999 Dysuria Dysuria Pain or discomfort during urination. Pain or discomfort during urination. C100104 Sign or Symptom C90259 NICHD Terminology C3001 Eczema Eczema Atopic Dermatitis || Eczematous Dermatitis A form of dermatitis characterized by red, itchy, scaly, or crusty patches that can be chronic or intermittent. A form of dermatitis characterized by red, itchy, scaly, or crusty patches that can be chronic or intermittent. C3371 Skin Disorder C90259 NICHD Terminology C30010 US State US State One of the fifty states which is a member of the federation known as the United States of America. Other US geographic areas, such as Puerto Rico and the District of Columbia, are essentially equivalent to State when used in an address. C16495 Demographics C90259 NICHD Terminology C3002 Edema Edema Accumulation of an excessive amount of fluid in cells or intercellular tissues. Accumulation of an excessive amount of fluid in cells or intercellular tissues. C100104 Sign or Symptom C90259 NICHD Terminology C3003 Effusion Effusion A collection of fluid in a body cavity, which may be the result of a non-neoplastic disorder (e.g. heart failure) or a tumor (e.g. carcinoma of the lung). A collection of fluid in a body cavity, which may be the result of a non-neoplastic disorder (e.g. heart failure) or a tumor (e.g. carcinoma of the lung). C100104 Sign or Symptom C90259 NICHD Terminology C3004 Elliptocytosis Elliptocytosis A peripheral blood finding in which a large number of erythrocytes are shaped in an elliptical form. Elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the patient's erythrocytes (i.e. red blood cells) are elliptical rather than the typical biconcave disc shape. It is one of many red-cell membrane defects. In its severe forms, this disorder predisposes to hemolytic anemia. C36289 Hematopoietic System Finding C90259 NICHD Terminology C30085 Muscle Contraction Muscle Contraction The process where thick (myosin) and thin (actin) filaments slide against each other to produce a shortening or tensing of the muscle cell or fiber. The process where thick (myosin) and thin (actin) filaments slide against each other to produce a shortening or tensing of the muscle cell or fiber. C100104 Sign or Symptom C90259 NICHD Terminology C3009 Endocrine System Disorder Endocrine System Disorder Disorder of Endocrine System A non-neoplastic or neoplastic disorder that affects the endocrine system. Representative examples of non-neoplastic disorders include diabetes mellitus, hyperthyroidism, and adrenal gland insufficiency. Representative examples of neoplastic disorders include carcinoid tumor, neuroendocrine carcinoma, and pheochromocytoma. C2991 Disease or Disorder C90259 NICHD Terminology C3010 Endocrine Neoplasm Endocrine Neoplasm A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma. C3009 Endocrine System Disorder C90259 NICHD Terminology C3015 Eosinophilia Eosinophilia Abnormal high level of eosinophils in the blood. Abnormally high level of eosinophils in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C3016 Eosinophilic Granuloma Unifocal Langerhans Cell Histiocytosis Chronic Unifocal Langerhans Cell Histiocytosis || Eosinophilic Granuloma || Eosinophilic Xanthomatous Granuloma || Monostotic Langerhans Cell Histiocytosis A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes. A clinical variant of Langerhans cell histiocytosis that is characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults, often presenting with a lytic bone lesion of an unknown etiology. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu that includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes. C123396 Childhood Langerhans Cell Histiocytosis without Risk Organ Involvement C3107 Langerhans Cell Histiocytosis C90259 NICHD Terminology C3017 Ependymoma Ependymoma A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO) A malignant neoplasm arising from ependymal cells that line the ventricles of the brain and the central canal of the spinal cord. C3268 Nervous System Neoplasm C90259 NICHD Terminology C3020 Seizure Disorder Epilepsy Seizure Disorder A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. A neurological disorder characterized by recurring seizures. C96413 Brain Disorder C90259 NICHD Terminology C3024 Erythema Multiforme Erythema Multiforme A hypersensitivity reaction characterized by the sudden appearance of symmetrical cutaneous and mucocutaneous macular or papular lesions which evolve into lesions with bright red borders (target lesions). The lesions usually appear in the hands, feet, extremities, and face. Symptoms include fever, malaise, sore throat, cough, vomiting, diarrhea, arthralgia, and myalgia. Causes include infections (most commonly herpes simplex virus), drugs (e.g., sulfonamides, anticonvulsants, and antibiotics), malignancies, and collagen vascular disorders. A hypersensitivity reaction characterized by fixed, rapidly evolving lesions that develop from papules or papulovesicles in a sequential manner to a round target-like appearance. The lesions are usually symmetric, may involve palms, soles, and mucous membranes, and may have secondary bullous or purpuric variants. C3371 Skin Disorder C90259 NICHD Terminology C3034 Fanconi Syndrome Fanconi Syndrome A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients. A constellation of functional abnormalities including aminoaciduria, glycosuria, phosphaturia, renal tubular acidosis, and hypophosphatemia, resulting from decreased reabsorption caused by proximal renal tubule dysfunction. C3149 Kidney Disease C90259 NICHD Terminology C3036 Fatigue Fatigue Overall tiredness and lack of energy. Overall tiredness and lack of energy. C100104 Sign or Symptom C90259 NICHD Terminology C3038 Fever Fever Pyrexia Elevation of body temperature above normal due to inflammatory or immune responses. Elevation of body temperature above normal due to the production of more heat than the body is able to dissipate. C50589 Hyperthermia C90259 NICHD Terminology C3040 Fibrodysplasia Ossificans Progressiva Fibrodysplasia Ossificans Progressiva A condition in which there is progressive heterotopic bone formation of the tendons and muscles. An autosomal recessive disorder of connective tissue caused by mutation(s) in the ACVR1 gene, encoding activin receptor type-1. This condition is characterized by congenital malformations of the great toes and progressive ossification of skeletal muscle, fascia, tendons, and ligaments. C3101 Genetic Disorder C90259 NICHD Terminology C3043 Fibrosarcoma Fibrosarcoma Malignant Fibromatous Neoplasm A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone. C9118 Sarcoma C90259 NICHD Terminology C3045 Fistula Fistula Pathologic Fistula Abnormal epithelial-lined communication between two anatomical structures. Abnormal epithelial-lined communication between two structures. C36287 Congenital or Acquired Anatomic Abnormality C90259 NICHD Terminology C3046 Fracture Fracture Fracture of Bone A traumatic injury to the bone in which the continuity of the bone is broken. A traumatic injury to the bone in which the continuity of the bone is broken. C3671 Injury C90259 NICHD Terminology C3059 Glioma Glioma A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas. C3268 Nervous System Neoplasm C90259 NICHD Terminology C3063 Graft Versus Host Disease Graft Versus Host Disease GvHD A reaction, which may be fatal, in an immunocompromised subject (host) who has received an antigenically incompatible tissue transplant (graft) from an immunocompetent donor. The reaction is secondary to the activation of the transplanted cells against those host tissues that express an antigen not expressed by the donor, and is seen most commonly following bone marrow transplantation; acute disease is seen after 5-40 days, and chronic disease occurs weeks to months after transplantation. A reaction, which may be fatal, in an immunocompromised subject (host) who has received an antigenically incompatible tissue transplant (graft) from an immunocompetent donor. The reaction is secondary to the activation of the transplanted cells against those host tissues that express an antigen not expressed by the donor, and is seen most commonly following stem cell transplantation; acute disease is seen after 5-40 days, and chronic disease occurs weeks to months after transplantation. C3507 Immune System Disorder C90259 NICHD Terminology C3064 Granuloma Granuloma An inflammatory reaction usually caused by infectious organisms, foreign bodies, or cholesterol deposits. It is characterized by the presence of epithelioid histiocytes and chronic inflammation. A lesion characterized by the presence of epithelioid histiocytes and chronic inflammation. C3371 Skin Disorder C90259 NICHD Terminology C307 Biological Agent Biologic Biological Agent || Biological Drug || Biologicals || Biopharmaceuticals Biotechnology-derived pharmaceutical agents made from living organisms or their products. Includes recombinant proteins, monoclonal antibodies, and nucleic acids. A class of pharmaceutical agents made from living organisms or their products that includes recombinant proteins, antibodies, and nucleic acids. C1909 Pharmacologic Substance C90259 NICHD Terminology C3070 Granulosa Cell Tumor Granulosa Cell Tumor A slow-growing, malignant tumor, characterized by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumors that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms. A slow-growing, malignant tumor that is characterized by the presence of granulosa-like cells, and which is almost always found in the ovary. In rare cases, it has also been found in the testicle. C3794 Sex Cord-Stromal Tumor C90259 NICHD Terminology C3071 Graves Disease Graves Disease Basedow Disease Hyperthyroidism associated with diffuse hyperplasia of the thyroid gland (goiter), resulting from production of antibodies that are directed against the thyrotropin receptor complex of the follicular epithelial cells. As a result, the thyroid gland enlarges and secrets increased amounts of thyroid hormones. An autoimmune condition characterized by excessive immunoglobulin stimulation of the thyroid gland resulting in hyperthyroidism. C3009 Endocrine System Disorder C90259 NICHD Terminology C3073 Gynecomastia Gynecomastia Development of breast tissue in males. Presence of breast tissue in males. C36285 Endocrine System Finding C90259 NICHD Terminology C3079 Heart Disorder Heart Disorder Heart Disease A non-neoplastic or neoplastic disorder that affects the heart and/or the pericardium. Representative examples include endocarditis, pericarditis, atrial myxoma, cardiac myeloid sarcoma, and pericardial malignant mesothelioma. C2931 Cardiovascular Disorder C90259 NICHD Terminology C3080 Congestive Heart Failure Congestive Heart Failure Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales. C3079 Heart Disorder C90259 NICHD Terminology C3081 Heart Neoplasm Cardiac Neoplasm Cardiac Tumor || Neoplasm of Heart A benign or malignant neoplasm that affects the heart and/or the pericardium. Representative examples include atrial myxoma, cardiac myeloid sarcoma, and pericardial malignant mesothelioma. C3262 Neoplasm C90259 NICHD Terminology C3084 Hemangioendothelioma Hemangioendothelioma A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics. C3262 Neoplasm C90259 NICHD Terminology C3085 Hemangioma Hemangioma A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels. A benign, vascular neoplasm characterized by the formation of capillary-sized vascular channels. C3262 Neoplasm C90259 NICHD Terminology C3090 Hematuria Hematuria Blood in the urine. Blood in the urine. C3149 Kidney Disease C90259 NICHD Terminology C3092 Hemoglobinopathy Hemoglobinopathy An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule. An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule. C104003 Congenital Hematological Disorder C90259 NICHD Terminology C3093 Hemophilia Hemophilia A deficiency or abnormality of a blood coagulation factor characterized by the tendency to hemorrhage. Hemophilia is typically a hereditary disorder but, rarely, may be acquired. Inherited coagulation factor-deficient hemophilias include hemophilia A or classic hemophilia (hereditary factor VIII deficiency) hemophilia B or Christmas disease (hereditary factor IX deficiency), and hemophilia C (hereditary factor XI deficiency). Factor VIII inhibitors may occur spontaneously as autoantibodies, resulting in acquired hemophilia known as acquired factor VIII deficiency. Approximately 10% of patients with acquired hemophilia have an underlying malignancy. A coagulation disorder characterized by the partial or complete absence of factor VIII or IX activity in the blood. C27215 Coagulation Factor Deficiency C103172 Congenital Bleeding Disorder C90259 NICHD Terminology C3094 Hemoptysis Hemoptysis Coughing up blood from the respiratory tract. Coughing up blood from the respiratory tract. C26871 Respiratory System Disorder C90259 NICHD Terminology C3095 Hepatitis Hepatitis Inflammation of the liver; usually from a viral infection, but sometimes from toxic agents. Inflammation of the liver. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C3096 Hepatitis A Infection Hepatitis A Infection Hepatitis A Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water. C3439 Viral Infection C90259 NICHD Terminology C3097 Hepatitis B Infection Hepatitis B Infection Hepatitis B A viral infection caused by the hepatitis B virus. C3439 Viral Infection C90259 NICHD Terminology C3101 Genetic Disorder Genetic Disorder Hereditary Disease Genetic diseases are diseases in which inherited genes predispose to increased risk. The genetic disorders associated with cancer often result from an alteration or mutation in a single gene. The diseases range from rare dominant cancer family syndrome to familial tendencies in which low-penetrance genes may interact with other genes or environmental factors to induce cancer. Research may involve clinical, epidemiologic, and laboratory studies of persons, families, and populations at high risk of these disorders. C2991 Disease or Disorder C90259 NICHD Terminology C3105 Von Hippel-Lindau Syndrome Von Hippel-Lindau Syndrome Von Hippel-Lindau Disease An inherited familial cancer syndrome which is characterized by development of capillary hemangioblastomas of the central nervous system and retina; clear cell renal carcinoma; pheochromocytoma; pancreatic tumors; and inner ear tumors. The syndrome is associated with germline mutations of the VHL tumor suppressor gene, located on chromosome 3p25-26. Symptoms of VHL syndrome may not be apparent until the third decade of life. CNS hemangioblastoma is the most common cause of death, followed by clear cell renal cell carcinoma. --2004 An autosomal dominant multiple neoplasia syndrome caused by germline mutations of the VHL gene, encoding the protein von Hippel-Lindau tumor suppressor (pVHL). The condition is characterized by development of capillary hemangioblastomas of the central nervous system and retina, clear cell renal carcinoma, pheochromocytoma, pancreatic tumors, and inner ear tumors (endolymphatic sac tumors). C84348 Phakomatosis C90259 NICHD Terminology C3106 Histiocytosis Histiocytosis Histiocytic Syndrome A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes. C3262 Neoplasm C90259 NICHD Terminology C3107 Langerhans Cell Histiocytosis Langerhans Cell Histiocytosis A neoplastic proliferation of Langerhans cells which contain Birbeck granules by ultrastructural examination. Three major overlapping syndromes are recognized: eosinophilic granuloma, Letterer-Siwe disease, and Hand-Schuller-Christian disease. The clinical course is generally related to the number of organs affected at presentation. (WHO, 2001) Tissue infiltration by Langerhans cells (histiocytes). When infiltration involves the pituitary stalk or gland, presentation includes diabetes insipidus, which is sometimes accompanied by other pituitary dysfunction. C26323 Hematologic Disorder C90259 NICHD Terminology Histiocytosis X C3108 HIV Infection HIV Infection An infection caused by the human immunodeficiency virus. Infection caused by the human immunodeficiency virus. C26726 Infectious Disorder C90259 NICHD Terminology C3110 Hydatidiform Mole Hydatidiform Mole A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes. A placental disorder characterized by abnormal development with marked enlargement of the chorionic villi and hydropic changes which consist of hyperplasia of the villous trophoblastic cells. C117337 Placental Findings C90259 NICHD Terminology C3111 Hydrocephalus Hydrocephalus A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain. An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain. C96413 Brain Disorder C90259 NICHD Terminology C3112 Hypercalcemia Hypercalcemia Abnormally high concentration of calcium in the peripheral blood. Abnormally high level of calcium in the blood. C27120 Electrolyte Disorder C90259 NICHD Terminology C3114 Hypersensitivity Hypersensitivity Reaction An immune response that occurs following exposure to an innocuous antigen, but that does not require the presence of preformed antibodies to the antigen. An excessive immune system response to a substance that is not usually considered harmful. C3507 Immune System Disorder C90259 NICHD Terminology C3115 Type IV Hypersensitivity Type IV Hypersensitivity Reaction Type 4 Hypersensitivity Reaction Delayed hypersensitivity reaction (DTH) - type IV reaction, an inflammatory response that develops 24 to 72 hours after exposure to an antigen that the immune system recognizes as foreign. DTH is mediated by T cells rather than by antibodies. Th1 cells produce interferon gamma, interleukin (IL)-2, and tumor necrosis factor-beta and promote a cell-mediated immune response. A hypersensitivity reaction triggered by sensitized T lymphocytes encountering antigens. These reactions usually develop 18 to 24 hours after exposure. C3114 Hypersensitivity Reaction C90259 NICHD Terminology C3116 Type I Hypersensitivity Type I Immediate Hypersensitivity Reaction Type 1 Hypersensitivity || Type 1 Hypersensitivity Reaction Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue. An immunoglobulin E (IgE) mediated hypersensitivity reaction. These usually occur within an hour of exposure to an allergen. C3114 Hypersensitivity Reaction C90259 NICHD Terminology C3117 Hypertension Hypertension Blood pressure that is abnormally high. Abnormally high blood pressure. C2931 Cardiovascular Disorder C35552 Cardiovascular System Finding C90259 NICHD Terminology C3119 Portal Hypertension Portal Hypertension Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly. Increased blood pressure in the portal venous system which manifests as ascites, splenomegaly and/or varices. C3368 Gastrointestinal System Signs and Symptoms C3117 Hypertension C90259 NICHD Terminology C3120 Pulmonary Hypertension Pulmonary Hypertension Increased pressure within the pulmonary circulation due to lung or heart disorder. Elevated pulmonary vascular pressure. C3117 Hypertension C90259 NICHD Terminology C3123 Hyperthyroidism Hyperthyroidism Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor. Increased secretion of thyroid hormone(s) by the thyroid gland. C3009 Endocrine System Disorder C90259 NICHD Terminology C3126 Hypoglycemia Hypoglycemia Abnormally low level of glucose in the blood. Abnormally low level of glucose in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C3128 Hypotension Hypotension Low Blood Pressure Blood pressure that is abnormally low. Abnormally low blood pressure, which is usually symptomatic. C35552 Cardiovascular System Finding C90259 NICHD Terminology C3138 Inflammatory Bowel Disease Inflammatory Bowel Disease A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. Chronic inflammatory process affecting the gastrointestinal tract; primarily ulcerative colitis and Crohn's disease. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C3143 Jaundice Jaundice Yellow pigmentation of the skin, mucous membranes, and the eyes due to hyperbilirubinemia. Causes include liver disease, biliary tract obstruction, and hemolysis. Yellowish pigmentation of the skin, mucous membranes, and the eyes. C3368 Gastrointestinal System Signs and Symptoms C36281 Integumentary System Finding C90259 NICHD Terminology C3145 Keloid Keloid An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively. An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively. C3371 Skin Disorder C90259 NICHD Terminology C3149 Kidney Disorder Kidney Disease A neoplastic or non-neoplastic condition affecting the kidney. Representative examples of non-neoplastic conditions include glomerulonephritis and nephrotic syndrome. Representative examples of neoplastic conditions include benign processes (e.g., renal lipoma and renal fibroma) and malignant processes (e.g., renal cell carcinoma and renal lymphoma). C3430 Urinary System Disorder C90259 NICHD Terminology C3150 Kidney Neoplasm Kidney Tumor A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma. Neoplasia located in the kidney. C3149 Kidney Disease C90259 NICHD Terminology C3160 Letterer-Siwe Disease Multifocal Multisystem Langerhans Cell Histiocytosis Acute Disseminated Langerhans Cell Histiocytosis || Letterer-Siwe Disease A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia. A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems that may include the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia. C123395 Childhood Langerhans Cell Histiocytosis with Risk Organ Involvement C3107 Langerhans Cell Histiocytosis C90259 NICHD Terminology C3161 Leukemia Leukemia Leukemia, Disease A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years. A cancer of the blood or bone marrow that is characterized by increased production of abnormal blood cells. C9305 Cancer C90259 NICHD Terminology C3164 Acute Basophilic Leukemia Acute Basophilic Leukemia A rare acute myeloid leukemia in which the immature cells differentiate towards basophils. A rare acute myeloid leukemia in which the immature cells differentiate towards basophils. C3171 Acute Myeloid Leukemia C90259 NICHD Terminology C3167 Acute Lymphoblastic Leukemia Acute Lymphoblastic Leukemia Acute Lymphocytic Leukemia Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia. A rapidly progressive cancer of the blood and bone marrow consisting of the proliferation of lymphoblasts, which are immature, dysfunctional white blood cells. C3161 Leukemia C90259 NICHD Terminology C3168 Childhood Acute Lymphoblastic Leukemia Childhood Acute Lymphoblastic Leukemia Childhood ALL An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias. An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias. C4989 Childhood Leukemia C3167 Acute Lymphoblastic Leukemia C90259 NICHD Terminology C3170 Acute Megakaryoblastic Leukemia Acute Megakaryoblastic Leukemia AMKL An acute myeloid leukemia in which at least 50% of the blasts are of megakaryocytic lineage. (WHO, 2001) An acute myeloid leukemia in which at least 50% of the blasts are of megakaryocytic lineage. (WHO, 2001) C3171 Acute Myeloid Leukemia C90259 NICHD Terminology C3171 Acute Myeloid Leukemia Acute Myeloid Leukemia AML || Acute Granulocytic Leukemia || Acute Myelocytic Leukemia || Acute Myelogenous Leukemia A clonal expansion of myeloid blasts in the bone marrow, blood or other tissues. The classification of acute myeloid leukemias (AMLs) encompasses four major categories: 1) AML with recurrent genetic abnormalities; 2) AML with multilineage dysplasia; 3) Therapy-related AML; 4) AML not otherwise specified. The required bone marrow or peripheral blood blast percentage for the diagnosis of AML is 20% (WHO classification). A rapidly progressive cancer of the blood and bone marrow consisting of the proliferation of abnormal myeloblasts, which are immature, dysfunctional white blood cells. C3161 Leukemia C90259 NICHD Terminology C3182 Acute Promyelocytic Leukemia with PML-RARA Acute Promyelocytic Leukemia with t(15;17)(q22;q12); PML-RARA APL || APML || Acute Promyelocytic Leukemia An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate. It is characterized by the PML-RARA fusion. There are two variants: the typical and microgranular variant. This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis. (WHO) Acute promyelocytic leukemia (APL) is a distinct subtype of acute myeloid leukemia (AML), and it is treated differently than other types of AML because of its marked sensitivity to differentiating effects of all trans-retinoic acid. APL is characterized by a severe coagulopathy which may be present at diagnosis. APL occurs in 7 % of children with AML. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C90259 NICHD Terminology C3183 T Acute Lymphoblastic Leukemia T Acute Lymphoblastic Leukemia T-ALL Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001) An acute lymphoblastic leukemia of T-lineage origin. C3167 Acute Lymphoblastic Leukemia C90259 NICHD Terminology C3185 Leukemoid Reaction Leukemoid Reaction A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear. A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors, in a peripheral blood smear. C35524 Leukocytosis C36292 Laboratory Test Result C90259 NICHD Terminology C3186 Leukoplakia Leukoplakia A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition. Thick, white or gray patches on the oral mucosa. C36281 Integumentary System Finding C90259 NICHD Terminology C3188 Leydig Cell Tumor Leydig Cell Tumor A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course. A sex cord-stromal tumor, comprising Leydig cells, either predominantly or completely, occurring in the testis and rarely in the ovary. C3794 Sex Cord-Stromal Tumor C90259 NICHD Terminology C3192 Lipoma Lipoma A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue. C3262 Neoplasm C90259 NICHD Terminology C3198 Lung Disorder Lung Disorder Disorder of Lung A non-neoplastic or neoplastic disorder affecting the lung. Representative examples of non-neoplastic disorders include chronic obstructive pulmonary disease and pneumonia. Representative examples of neoplastic disorders include benign processes (e.g., respiratory papilloma) and malignant processes (e.g., lung carcinoma and metastatic cancer to the lung). C26871 Respiratory System Disorder C90259 NICHD Terminology C3201 Systemic Lupus Erythematosus Systemic Lupus Erythematosus SLE An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific. An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific. C27153 Lupus Erythematosus C90259 NICHD Terminology C3208 Lymphoma Lymphoma A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas. A malignant neoplasm of the lymphatic system that is comprised of abnormal lymphocytes. C9305 Cancer C90259 NICHD Terminology C3211 Non-Hodgkin Lymphoma Non-Hodgkin Lymphoma Non-Hodgkin's Lymphoma Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage. A malignant neoplasm of the lymphatic system that is comprised of abnormal lymphocytes in the absence of Reed-Sternberg cells. C3208 Lymphoma C90259 NICHD Terminology C3214 Malabsorption Syndrome Malabsorption Syndrome A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea. A syndrome usually characterized by diarrhea resulting from the inadequate absorption of macronutrients in the small intestine. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C3222 Medulloblastoma Medulloblastoma A malignant, invasive embryonal neoplasm arising from the cerebellum or posterior fossa. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity. A rapidly progressive cancer of the brain that originates in the cerebellum. C3268 Nervous System Neoplasm C90259 NICHD Terminology C32221 Body Part Body Part Body Structure Any part of an organism. C12219 Anatomic Structure, System, or Substance C90259 NICHD Terminology C3224 Melanoma Melanoma A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. A malignant neoplasm comprised of melanocytes typically arising in the skin. C9305 Cancer C3371 Skin Disorder C90259 NICHD Terminology C3225 Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Neoplasia Type 1 Multiple Endocrine Adenomatosis Multiple endocrine neoplasia caused by inactivation of the tumor suppressor gene MEN-1. Patients may develop hyperparathyroidism and parathyroid gland adenomas, pituitary gland adenomas, pancreatic islet cell neoplasms, and carcinoid tumors. Multiple endocrine neoplasia caused by inactivating mutation(s) of the tumor suppressor gene MEN1, encoding the menin protein, a component of the histone methyltransferase complex. The condition is characterized by hyperfunctioning adenomas of the parathyroid glands, adrenal glands, pituitary gland, and pancreatic endocrine cells (most commonly gastrinomas and insulinomas); thymic and bronchial carcinoid tumors also may develop. C6432 Multiple Endocrine Neoplasia Syndrome(s) C90259 NICHD Terminology Wermer Syndrome C3226 Multiple Endocrine Neoplasia Type 2A Multiple Endocrine Neoplasia Type 2A Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas, and may also develop pheochromocytomas and parathyroid gland hyperplasia. Multiple endocrine neoplasia caused by activating mutation(s) of the RET protooncogene, encoding proto-oncogene tyrosine-protein kinase receptor Ret. This condition is characterized by medullary thyroid carcinoma, accompanied in some cases by pheochromocytoma and parathyroid gland hyperplasia or adenoma. C6432 Multiple Endocrine Neoplasia Syndrome(s) C90259 NICHD Terminology C3227 Multiple Endocrine Neoplasia Type 2B Multiple Endocrine Neoplasia Type 2B Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas and numerous neural defects including neuromas. Multiple endocrine neoplasia caused by activating mutation(s) of the RET protooncogene, encoding proto-oncogene tyrosine-protein kinase receptor Ret (most commonly the M918T mutation). This condition is characterized by an aggressive form of medullary thyroid carcinoma, accompanied by pheochromocytoma, mucosal neuromas, thickened corneal nerves, and Marfanoid habitus in most affected individuals. C6432 Multiple Endocrine Neoplasia Syndrome(s) C90259 NICHD Terminology C3230 Meningioma Meningioma A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO) A usually benign tumor that develops in the meninges. C3268 Nervous System Neoplasm C90259 NICHD Terminology C3235 Metabolic Disorder Metabolic Disease A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. C9229 Systemic Disorder C90259 NICHD Terminology C3238 Milium Cyst Milia Small (one to two mm), firm, white cysts on the skin. Small (one to two mm), firm, white cysts. C3371 Skin Disorder C90259 NICHD Terminology C3243 Multiple Sclerosis Multiple Sclerosis A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers. An autoimmune demyelinating disease characterized by a relapsing-remitting or progressive pattern of central nervous system impairment. C2889 Autoimmune Disease C2934 Central Nervous System Disorder C90259 NICHD Terminology C3245 Fungal Infection Fungal Infection Mycosis An infection caused by a fungus. An infection caused by a fungus. C128320 Infection C90259 NICHD Terminology C3247 Myelodysplastic Syndrome Myelodysplastic Syndrome A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001) A pre-malignant disorder characterized by blood cytopenias and abnormalities in bone marrow morphology. C3262 Neoplasm C90259 NICHD Terminology C3249 Acute Myeloid Leukemia without Maturation Acute Myeloid Leukemia without Maturation An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001) An acute myeloid leukemia (AML) characterized by blasts without evidence of significant maturation in the neutrophilic lineage. C3171 Acute Myeloid Leukemia C90259 NICHD Terminology C3250 Acute Myeloid Leukemia with Maturation Acute Myeloid Leukemia with Maturation An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001) An acute myeloid leukemia (AML) characterized by blasts with evidence of significant maturation in the neutrophilic lineage. C3171 Acute Myeloid Leukemia C90259 NICHD Terminology C3258 Nausea Nausea Upper abdominal discomfort associated with an urge to vomit. Upper abdominal discomfort associated with an urge to vomit. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C3262 Neoplasm Neoplasm Neoplastic Disease A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias. C2991 Disease or Disorder C90259 NICHD Terminology C32621 Fontanelle Fontanelle The four gaps in the skull of a neonate or fetus where the sutures converge. The bulging or depression of the membranous soft spots can be indicative of intracranial fluid buildup or systemic dehydration. C32221 Body Part C90259 NICHD Terminology C3266 Hereditary Neoplastic Syndrome Hereditary Neoplastic Syndrome The inherited predisposition toward getting a tumor. C28193 Syndrome C90259 NICHD Terminology C3267 Wilms Tumor Wilms Tumor An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. A malignant neoplasm of embryonal origin arising within the kidney. C9305 Cancer C90259 NICHD Terminology C3268 Nervous System Neoplasm Nervous System Neoplasm Neoplasm of Nervous System A benign or malignant, primary or metastatic neoplasm involving the central or peripheral nervous system. C3262 Neoplasm C90259 NICHD Terminology C3270 Neuroblastoma Neuroblastoma A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation. A malignant neoplasm comprised of neuroblasts that commonly arises in or near the adrenal glands. C3268 Nervous System Neoplasm C90259 NICHD Terminology C3273 Neurofibromatosis Type 1 Neurofibromatosis Type 1 NF1 || Neurofibromatosis || Neurofibromatosis Type 1 Microdeletion Syndrome || Von Recklinghausen Disease The most common type of neurofibromatosis. It is characterized clinically by cutaneous and subcutaneous tumors with patches of hyperpigmentation. The hyperpigmented skin areas, are present from birth and found anywhere on the body surface. They can vary markedly in size and color. The dark brown areas are called cafe-au-lait spots. The multiple cutaneous and subcutaneous tumors are nerve sheath tumors, called neurofibromas. They can develop anywhere along the peripheral nerve fibers. Neurofibromas can become quite large, causing a major disfigurement, eroding bone, and compressing various peripheral nerve structures. Type 1 neurofibromatosis has dominant inheritance, with a gene locus on the proximal long arm of chromosome 17. An autosomal dominant form of neurofibromatosis caused by mutation(s) in the NF1 gene, encoding neurofibromin. The clinical features of this condition may include smooth bordered areas of hyperpigmentation, known as cafe-au-lait spots, axillary freckling, Lisch nodules, short stature, cutaneous and subcutaneous tumors (neurofibromas), optic nerve gliomas, precocious puberty, and growth hormone excess. C6727 Neurofibromatosis C90259 NICHD Terminology C3279 Night Sweats Night Sweats Perspiration experienced nocturnally that is unrelated to environmental temperature. Nocturnal perspiration that is unrelated to environmental temperature. C100104 Sign or Symptom C90259 NICHD Terminology C3282 Nystagmus Nystagmus Involuntary movements of the eyeballs. The presence or absence of nystagmus is often used in the diagnosis of a variety of neurological and visual disorders. Repetitive and involuntary movement of the eyes. C99208 Eye Finding C90259 NICHD Terminology C3285 Ocular Hypertension Ocular Hypertension Pressure Behind Eyeballs Abnormally high intraocular pressure. Abnormally high intraocular pressure. C26767 Eye Disorder C90259 NICHD Terminology C32856 Internal Nare Internal Nare The inner portion of the nostrils of the nose. C32221 Body Part C90259 NICHD Terminology C3289 Opportunistic Infection Opportunistic Infection OI Infection caused by an organism that is capable of causing disease in immunocompromised patients only (e.g. HIV-positive or transplanted patients).--2004 An infection that occurs in an immunocompromised host, but that does not usually cause an infection with similar frequency or severity in a normal (immunocompetent) host. C26726 Infectious Disorder C90259 NICHD Terminology C3298 Osteoporosis Osteoporosis A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss). Reduced bone mineral density due to decreased number and thickness of bone trabeculae and decreased cortical thickness, associated with increased risk of skeletal fractures. A clinical diagnosis of osteoporosis in childhood requires either a finding of one or more otherwise unexplained vertebral compression fractures, or the presence of bone mineral density Z-score less than or equal to 2.0 accompanied by one or more of the following: 1) at least two long bone fractures by age 10 years; 2) at least three long bone fractures up to age 19 years. C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C3299 Infectious Otitis Externa Infectious Otitis Externa Outer Ear Infection || Swimmer's Ear Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain. Otitis externa that is caused by an infectious agent. C79601 Otitis Externa C26726 Infectious Disorder C90259 NICHD Terminology C3300 Ovarian Cyst Ovarian Cyst A cyst that arises from the ovary. Representative examples include simple, complex, corpus luteum, and endometrioid cysts. Symptoms include pelvic and abdominal pain and irregular periods. C36284 Reproductive System Finding C2978 Cyst C90259 NICHD Terminology C3303 Pain Pain The sensation of discomfort, distress, or agony, resulting from the stimulation of specialized nerve endings. An unpleasant sensation associated with real or perceived physical or mental trauma. C100104 Sign or Symptom C90259 NICHD Terminology C3306 Pancreatitis Pancreatitis Inflammation of the pancreas. Inflammation of the pancreas. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C3307 Papilledema Papilledema Swelling around the optic disc, usually due to increased intracranial pressure or pressure on the optic nerve by a tumor. Swelling of the optic disc secondary to increased intracranial pressure. C99208 Eye Finding C90259 NICHD Terminology C3310 Paralysis Paralysis Paralytic Syndrome Partial or complete loss of function of one or more muscles. It is usually caused by damage to the nervous system. C26835 Nervous System Disorder C90259 NICHD Terminology C3318 Peptic Ulcer Peptic Ulcer A mucosal erosion that occurs in the esophagus, stomach or duodenum. Symptoms can include abdominal pain, nausea and vomiting, and bleeding. A mucosal injury that occurs in the stomach or duodenum. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C3319 Pericardial Effusion Pericardial Effusion Fluid collection within the pericardial sac, usually due to inflammation. Fluid collection within the pericardial sac. C101327 Pericardial Anomaly C90259 NICHD Terminology C3323 Petechia Petechiae Purple or red hemorrhagic pinpoint spots in the skin or mucous membranes. Purple or red hemorrhagic pinpoint spots in the skin or mucous membranes. C36281 Integumentary System Finding C90259 NICHD Terminology C3328 Pineal Region Neoplasm Pinealoma Pineal Region Tumor Neoplasms that are located in the pineal gland. These neoplasms arise either from pineal parenchymal cells (pineocytes), as do pineocytomas and the more aggressive pineoblastomas, or from other cell types, as do pineal astrocytic tumors (notably pilocytic astrocytomas) and germ cell tumors. Clinical symptoms include neuro-ophthalmologic dysfunction, changes in mental status, dysfunction of the brain stem, and hypothalamic-based endocrine abnormalities. A tumor arising in the pineal region, the majority of which are malignant germ cell tumors. A minority of pinealomas are benign, and comprise neoplastic cells that resemble normal pineocytes. C2934 Central Nervous System Disorder C90259 NICHD Terminology C3329 Pituitary Gland Adenoma Pituitary Gland Adenoma A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss. A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. C3262 Neoplasm C90259 NICHD Terminology C333 Calcium Channel Blocker Calcium Channel Blocker CCB A pharmaceutical agent that inhibits the movement of calcium across through calcium channels in the cell membrane, preventing or decreasing the amount of calcium able to enter the cell. These drugs are used for their chronotropic, antihypertensive and vasodilatory effects. A pharmaceutical agent that inhibits the movement of calcium across through calcium channels in the cell membrane, preventing or decreasing the amount of calcium able to enter the cell. These drugs are used for their chronotropic, antihypertensive and vasodilatory effects. C1909 Pharmacologic Substance C90259 NICHD Terminology C3330 Pituitary Gland Neoplasm Pituitary Tumor A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland. A neoplasm in the pituitary gland. C3414 Thyroid Tumor C90259 NICHD Terminology C3331 Pleural Effusion Pleural Effusion Increased amounts of fluid within the pleural cavity. Symptoms include shortness of breath, cough, and chest pain. It is usually caused by lung infections, congestive heart failure, pleural and lung tumors, connective tissue disorders, and trauma. An accumulation of fluid in the pleural cavity. C26871 Respiratory System Disorder C90259 NICHD Terminology C3333 Pneumonia Pneumonia An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, due to infections (viruses, fungi, mycoplasma, or bacteria), treatment (e.g. radiation), or exposure (inhalation) to chemicals. Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness. A condition resulting from infection in one or both lungs. C3198 Lung Disorder C90259 NICHD Terminology C3334 Pneumocystis Pneumonia Pneumocystis Pneumonia PCP || PJP || Pneumocystis jirovecii Pneumonia Pneumonia resulting from infection with Pneumocystis jirovecii, frequently seen in the immunologically compromised, such as persons with AIDS, or steroid-treated individuals, the elderly, or premature or debilitated babies during their first three months. Patients may be only slightly febrile (or even afebrile), but are likely to be extremely weak, dyspneic, and cyanotic. This is a major cause of morbidity among patients with AIDS. A severe, progressive pneumonia caused by Pneumocystis jirovecii, which is usually seen in immunologically compromised individuals. C3333 Pneumonia C90259 NICHD Terminology Pneumocystis carinii Pneumonia C3336 Polycythemia Vera Polycythemia Vera A chronic myeloproliferative neoplasm characterized by an increased red blood cell production. The bone marrow is hypercellular due to a panmyelotic proliferation typically characterized by pleomorphic megakaryocytes. The major symptoms are related to hypertension, splenomegaly or to episodes of thrombosis and/or hemorrhage. C9305 Cancer C90259 NICHD Terminology C3342 Lactotroph Adenoma Prolactinoma An adenoma of the anterior lobe of the pituitary gland that produces prolactin. It is the most common type of pituitary gland adenomas and it is associated with hyperprolactinemia. Clinical manifestations include amenorrhea, galactorrhea, impotence, headache, and visual disturbances. A non-malignant prolactin-secreting pituitary tumor. C3329 Pituitary Gland Adenoma C90259 NICHD Terminology C3344 Pruritus Pruritus Itch An intense itching sensation. An itching sensation. C36281 Integumentary System Finding C100104 Sign or Symptom C90259 NICHD Terminology C3346 Psoriasis Psoriasis An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp. An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp. C3371 Skin Disorder C90259 NICHD Terminology C3347 Sexual Dysfunction Sexual Dysfunction Disturbances in sexual desire or performance. Disturbances in sexual desire or performance. C36284 Reproductive System Finding C90259 NICHD Terminology C3349 Radiation-Induced Dermatitis Radiation Dermatitis A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation. A cutaneous inflammatory reaction occurring as a result of exposure to ionizing radiation. C3371 Skin Disorder C90259 NICHD Terminology C3354 Respiratory Syncytial Virus Infection Respiratory Syncytial Virus Infection Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children. Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children. C3439 Viral Infection C90259 NICHD Terminology C3358 Rhabdomyoma Rhabdomyoma Rhabdomyomatous Neoplasm A benign mesenchymal tumor arising from skeletal or cardiac muscle. C3262 Neoplasm C90259 NICHD Terminology C3359 Rhabdomyosarcoma Rhabdomyosarcoma A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. A malignant neoplasm arising from skeletal myocytes. C9306 Soft Tissue Sarcoma C90259 NICHD Terminology C3364 Septicemia Sepsis Sepsis Syndrome || Septicemia The presence of pathogenic microorganisms in the blood stream causing a rapidly progressing systemic reaction that may lead to shock. Symptoms include fever, chills, tachycardia, and increased respiratory rate. It is a medical emergency that requires urgent medical attention. A systemic inflammatory response to an infection. C2890 Bacterial Infection C90259 NICHD Terminology C3365 Sexually Transmitted Disorder Sexually Transmitted Infection STD || STI || Sexually Transmitted Disease || VD A disorder acquired through sexual contact. An infection that is acquired through sexual contact. C26726 Infectious Disorder C90259 NICHD Terminology Venereal Disease C3367 Finding Finding Observable Entity Clinical, laboratory or molecular evidence, or absence of evidence of disease. C90259 NICHD Terminology C90259 NICHD Terminology C3368 Digestive System Signs and Symptoms Gastrointestinal System Signs and Symptoms Signs and symptoms associated with disturbances within the digestive system, which includes the stomach, intestines and all associated organs that aid in digestion. C100104 Sign or Symptom C90259 NICHD Terminology C3371 Skin Disorder Skin Disorder Disorder of Skin Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs. C2991 Disease or Disorder C90259 NICHD Terminology C3376 Sleep Disorder Sleep Disorder A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep. A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep. C26835 Nervous System Disorder C90259 NICHD Terminology C3381 Spinal Cord Neoplasm Spinal Cord Tumor A primary or metastatic neoplasm affecting the spinal cord. A neoplasm arising within the spinal cord. C3268 Nervous System Neoplasm C90259 NICHD Terminology C3389 Post-Traumatic Stress Disorder Post-Traumatic Stress Disorder An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term. C2878 Anxiety Disorder C90259 NICHD Terminology C3390 Cerebrovascular Accident Cerebrovascular Accident Cerebral Infarction || Stroke A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event. Brain tissue necrosis due to a disturbance in the blood flow or hemorrhage. C50438 Intracranial Hemorrhage C90259 NICHD Terminology C3391 Sturge-Weber Syndrome Sturge-Weber Syndrome A congenital disorder characterized by the presence of a port-wine nevus birthmark on one or both sides of the face. Additional clinical manifestations may include seizures, leptomenigeal angiomas, glaucoma, progressive hemiparesis and cognitive deficits. C84348 Phakomatosis C3101 Genetic Disorder C90259 NICHD Terminology C3394 Suicide Suicide The act of ending one's own life. Death caused by intentionally inflicted self harm. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C3395 Sunburn Sunburn An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering. An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering. C34441 Burn C90259 NICHD Terminology C3396 Superior Vena Cava Syndrome Superior Vena Cava Syndrome Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache. Elevated pressure in the superior vena cava causing a constellation of recognized symptoms such as swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea and headache. C99137 Great Vessels Abnormality C90259 NICHD Terminology C3403 Teratoma Teratoma A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as benign (grade 0 or 1), immature (grade 2), and malignant (grade 3). Grade 0 teratomas contain only mature elements; grade 1 teratomas have a limited degree of immaturity; grade 2 teratomas have a more extensive degree of immaturity; grade 3 teratomas are composed exclusively of immature tissues. The prognosis depends on patient age, tumor size and grade, and stage. A non-germinomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal-type tissues. C3708 Germ Cell Tumor C90259 NICHD Terminology C3407 Essential Thrombocythemia Essential Thrombocythemia ET || Essential Thrombocytosis A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008) A chronic condition that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and elevated risk for thrombosis and/or hemorrhage. C35530 Thrombocytosis C90259 NICHD Terminology C3408 Thrombocytopenia Thrombocytopenia Thrombocytopenic Disorder A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood. Abnormally low level of platelets in the blood. C26323 Hematologic Disorder C36292 Laboratory Test Result C90259 NICHD Terminology C3410 Thrombophlebitis Thrombophlebitis Inflammation of the veins associated with the presence of a thrombus. Inflammation of the veins associated with the presence of a thrombus. C99107 Venous Thrombosis C90259 NICHD Terminology C3414 Thyroid Gland Neoplasm Thyroid Tumor A benign or malignant neoplasm affecting the thyroid gland. A neoplasm of the thyroid gland. C3010 Endocrine Neoplasm C90259 NICHD Terminology C3415 Thyroid Gland Nodule Thyroid Nodule A nodular lesion that develops in the thyroid gland. Causes include adenoma, thyroiditis, fluid-filled cyst, multinodular goiter, and carcinoma. A discrete tissue mass in the thyroid gland. C3414 Thyroid Tumor C90259 NICHD Terminology C3418 Toxoplasmosis Toxoplasmosis A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii. A protozoan infection that is acquired by the ingestion or maternal-to-fetal transmission of Toxoplasma gondii. C34953 Protozoal Infection C90259 NICHD Terminology C34197 Lanugo Lanugo Fine downy hair that covers the body of a human fetus beginning in the fifth month of gestation; it is usually shed by the ninth month of gestation. C32221 Body Part C90259 NICHD Terminology C3423 Tuberculosis Tuberculosis Active Tuberculosis || TB || Tuberculosis || Tuberculosis Disease A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use. A disease caused by Mycobacterium tuberculosis infection that is characterized by the growth of nodules in body tissues, most commonly the lungs, and may be transmitted through droplets from the throat or lungs of individuals with the active respiratory disease. C2890 Bacterial Infection C90259 NICHD Terminology C3424 Tuberous Sclerosis Tuberous Sclerosis Tuberous Sclerosis Syndrome Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade. C84348 Phakomatosis C90259 NICHD Terminology C3425 Tumor Lysis Syndrome Tumor Lysis Syndrome A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death. Multiple metabolic abnormalities resulting from tumor cell cytolysis characterized typically by hyperkalemia, hyperphosphatemia, hyperuricemia, and impaired renal function. C3235 Metabolic Disease C90259 NICHD Terminology C3426 Ulcer Ulcer Ulceration A circumscribed inflammatory and often suppurating lesion on the skin or an internal mucous surface resulting in necrosis of tissue. A circumscribed loss of integrity of the skin or mucous membrane. C36281 Integumentary System Finding C90259 NICHD Terminology C3430 Urinary System Disorder Urinary System Disorder Disorder of Urinary System Disorders of any part of the urologic system. Any disease affecting the urinary system. C2991 Disease or Disorder C90259 NICHD Terminology C3432 Urticaria Urticaria Hives A transient, itchy skin eruption characterized by wheals with pale interiors and red margins. A transient, itchy skin eruption characterized by wheals with pale interiors and red margins. C36281 Integumentary System Finding C90259 NICHD Terminology C34336 Spontaneous Abortion Spontaneous Abortion Miscarriage Fetal loss at less than 20 weeks of gestation. Fetal loss at less than 20 weeks of gestation. C100104 Sign or Symptom C90259 NICHD Terminology C34345 Achondroplasia Achondroplasia An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. The condition is characterized by inappropriate cartilage growth plate differentiation and deficient endochondral growth, manifest clinically with severe rhizomelic short stature, short limbs, characteristic facies with frontal bossing and midface hypoplasia. An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. The condition results in inappropriate cartilage growth plate differentiation and deficient endochondral growth, and manifests clinically with severe rhizomelic short stature. C84978 Osteochondrodysplasia C89330 Developmental Disorder C90259 NICHD Terminology C34347 Acquired Coagulation Factor Deficiency Acquired Coagulation Factor Deficiency Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease. Deficiency of a coagulation factor that is not caused by genetic alterations. C27215 Coagulation Factor Deficiency C90259 NICHD Terminology C34348 Acrocephalosyndactyly Acrocephalosyndactyly A genetic disorder characterized by craniosynostosis and fusion of the fingers and toes. C3101 Genetic Disorder C89337 Congenital Musculoskeletal Defect C90259 NICHD Terminology C34360 Congenital Adrenal Hyperplasia Congenital Adrenal Hyperplasia Adrenogenital Disorder A genetic disorder characterized by defects in the synthesis of cortisol and/or aldosterone, resulting in hyperplasia of the adrenal cortical cells. A group of heritable conditions associated with loss-of-function mutations in the genes encoding proteins involved in corticosteroid production, resulting in enlargement of the adrenal gland. C2849 Congenital Malformation C90259 NICHD Terminology C34362 Agoraphobia Agoraphobia An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop. C2878 Anxiety Disorder C90259 NICHD Terminology C34368 Alpha Thalassemia Alpha Thalassemia A genetic hematologic disorder characterized by partial or complete absence of the alpha globin chains of the heme molecule. A genetic hematologic disorder characterized by loss of function mutations in one or more of the alpha globin genes. C35069 Thalassemia C90259 NICHD Terminology C34370 Amelia Amelia A congenital malformation characterized by the complete absence of all limbs. C89337 Congenital Musculoskeletal Defect C90259 NICHD Terminology C34375 Beta Thalassemia Beta Thalassemia An autosomal recessive disorder that affects the production of beta polypeptide chains which are necessary for the hemoglobin synthesis. Anemia and failure to thrive are characteristic features. An autosomal recessive disorder that affects the production of beta polypeptide chains that are necessary for hemoglobin synthesis. Anemia and failure to thrive are characteristic features. C35069 Thalassemia C90259 NICHD Terminology C34376 Hemolytic Anemia Hemolytic Anemia Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies. Anemia resulting from the premature destruction of the erythrocytes. C131656 Anemia due to Increased Destruction C35142 Normocytic Anemia C90259 NICHD Terminology C34377 Acquired Hemolytic Anemia Acquired Hemolytic Anemia Hemolytic anemia, the cause of which is not present at birth. A form of hemolytic anemia, characterized by the premature destruction of the erythrocytes, for which the cause is not present at birth. C34376 Hemolytic Anemia C90259 NICHD Terminology C34378 Autoimmune Hemolytic Anemia Autoimmune Hemolytic Anemia An acquired anemia caused by destruction of the red blood cells by autoantibodies. Causes include autoimmune disorders, lymphoproliferative disorders, and infections. An acquired anemia caused by destruction of the erythrocytes by autoantibodies. C99382 Autoimmune Cytopenia C91782 Immune Hemolytic Anemia C90259 NICHD Terminology C34379 Hereditary Hemolytic Anemia Hereditary Hemolytic Anemia A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies. Hemolytic anemia for which the cause is an inherited disorder. C35228 Congenital Anemia C34376 Hemolytic Anemia C90259 NICHD Terminology C34380 Hypochromic Anemia Hypochromic Anemia Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency. Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency. C2869 Anemia C90259 NICHD Terminology C34381 Macrocytic Anemia Macrocytic Anemia Anemia that is characterized by increased red blood cell volume. Anemia characterized by larger than normal erythrocytes with a mean corpuscular volume (MCV) greater than 100 femtoliters. The threshold value is greater in infancy. C2869 Anemia C90259 NICHD Terminology C34382 Megaloblastic Anemia Megaloblastic Anemia Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs. A disorder characterized by low red blood cells and/or hemoglobin and abnormally large, immature circulating red blood cells. C34381 Macrocytic Anemia C2869 Anemia C90259 NICHD Terminology C34383 Sickle Cell Disease Sickle Cell Disease Sickle Cell Anemia || Sickling Disorder due to Hemoglobin S A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia. An autosomal recessive disorder characterized by sickle-shaped erythrocytes, anemia, functional asplenia, and episodic acute and chronic organ toxicity due to vaso-occlusion. C3092 Hemoglobinopathy C90259 NICHD Terminology C34384 Anemia due to Disorder of Glutathione Metabolism Anemia due to Disorder of Glutathione Metabolism Anemia resulting from an abnormality of glutathione deficiency. A form of hemolytic anemia that results from the defective metabolism of the amino acid glutathione. C2869 Anemia C90259 NICHD Terminology C34387 Anorexia Nervosa Anorexia Nervosa A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea. C89332 Eating Disorder C90259 NICHD Terminology C34388 Anovulation Anovulation The absence of ovulation. The absence of ovulation. C36285 Endocrine System Finding C90259 NICHD Terminology C3439 Viral Infection Viral Infection Viral Disease Any disease caused by a virus. Any disease caused by a virus. C128320 Infection C90259 NICHD Terminology C34393 Aphasia Aphasia Impairment of the expression or comprehension of verbal and written language. Impairment of the expression or comprehension of verbal and written language. C87124 Central Nervous System Signs and Symptoms C90259 NICHD Terminology C34399 Arteritis Arteritis An inflammatory process affecting an artery. Inflammation of an artery. C35117 Vascular Disorder C90259 NICHD Terminology C34412 Bartter Syndrome Bartter Syndrome A rare inherited syndrome characterized by juxtaglomerular cell hyperplasia, hyperaldosteronism, hypokalemia, and alkalosis. Patients have high levels of plasma renin concentration which is not associated with hypertension. A rare, inherited syndrome characterized by juxtaglomerular cell hyperplasia, hyperaldosteronism, hypokalemia, and alkalosis. Affected individuals have high concentration of plasma renin that is not associated with hypertension. C28193 Syndrome C90259 NICHD Terminology C34414 Basophilia Basophilia Abnormally high level of basophils in the blood. Abnormally high level of basophils in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C34415 Beckwith-Wiedemann Syndrome Beckwith-Wiedemann Syndrome A genetic syndrome caused by abnormalities in chromosome 11. It is characterized by large birth weight, macroglossia, umbilical hernia, ear abnormalities, and hypoglycemia. Patients with this syndrome have an increased risk of developing embryonal tumors (gonadoblastoma, hepatoblastoma, Wilms tumor, Rhabdomyosarcoma) and adrenal cortex carcinomas. A complex syndrome resulting from various genetic and epigenetic anomalies of the 11p15.5 chromosomal region, leading to dysregulated expression of imprinted genes. Specific genes involved include CDKN1C, H19, IGF2, and KCNQ1OT1. One of the key genetic anomalies is an imbalance between the paternally expressed IGF2 growth enhancer gene and the maternally expressed H19 growth suppressor gene, leading to fetal and postnatal overgrowth. The condition is typically characterized by macrosomia, macroglossia, umbilical hernia or more severe abdominal wall anomalies such as omphalocele, ear lobe indentations, and hypoglycemia associated with hyperinsulinemia due to pancreatic islet cell hyperplasia. Patients with this syndrome have an increased risk for development of embryonal tumors (particularly Wilms tumor and hepatoblastoma) and adrenal cortex carcinoma. C3101 Genetic Disorder C89330 Developmental Disorder C90259 NICHD Terminology C34416 Behcet Syndrome Behcet Syndrome Behcet Disease || Behcet's Syndrome || Behçet Disease || Behçet's Syndrome A rare chronic inflammatory disorder of unknown etiology. It is characterized by the development of ulcers in the mouth and genital region and uveitis. Other signs and symptoms include arthritis, deep vein thrombosis and superficial thrombophlebitis. A systemic vasculitis affecting both arteries and veins which manifests primarily as recurrent oral and genital ulceration, uveitis, characteristic rash, and arthritis. It may also cause central nervous system disease, gastrointestinal inflammation or ulceration, or thrombophlebitis. C26912 Vasculitis C90259 NICHD Terminology Behçet-Adamantiades Syndrome || Morbus Behçet's Syndrome || Silk Road Disease C3442 Vomiting Vomiting Emesis Forceful ejection of the contents of the stomach through the mouth. Expulsion of the contents of the stomach through the mouth. C100104 Sign or Symptom C90259 NICHD Terminology C34421 Biliary Atresia Biliary Atresia Congenital Biliary Atresia A congenital disorder characterized by blockage or absence of the intrahepatic or extrahepatic bile ducts. C97171 Congenital Gastrointestinal Disorder C90259 NICHD Terminology C34423 Bipolar Disorder Bipolar Disorder A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression. C2893 Psychiatric Disorder C90259 NICHD Terminology C34428 Blastomycosis Blastomycosis A fungal infection caused by inhalation of spores of Blastomyces dermatitidis. It presents with flu-like symptoms including fever, chills, cough, pleuritic chest pain and myalgias. It may lead to a chronic granulomatous pulmonary infection and disseminate to other anatomic sites including skin, nervous system and bones. A fungal infection that is usually caused by inhalation of spores of Blastomyces dermatitidis; it most commonly presents with fever, chills, cough, pleuritic chest pain, and myalgias. The infection can disseminate to other anatomic sites, including skin, nervous system, and bones. C3245 Fungal Infection C90259 NICHD Terminology C34438 Breech Presentation Breech Presentation A fetal presentation in which the baby descends into the birth canal with hips, buttocks or its foot first during delivery. A fetal presentation in which the baby descends into the birth canal with hips, buttocks or its foot first during delivery. C92793 Fetal Malpresentation C90259 NICHD Terminology C34439 Bronchospasm Bronchospasm Sudden contraction of the smooth muscles of the bronchial wall. A pathologic contraction of the smooth muscle of the bronchial wall. C45233 Respiratory System Finding C90259 NICHD Terminology C3444 Granulomatosis with Polyangiitis Granulomatosis with Polyangiitis GPA || Wegener Granulomatosis || Wegener's Granulomatosis A rare, autoimmune, systemic medium and small size vasculitis. It is characterized by the formation of necrotizing granulomas in the respiratory tract, necrotizing angiitis, and glomerulonephritis. Systemic vasculitis affecting small to medium-sized vessels, characterized by necrotizing granulomas in the respiratory tract, necrotizing angiitis, glomerulonephritis with little to no immune complex deposition, and typically positive for antineutrophil cytoplasmic antibody staining in a cytoplasmic pattern (C-ANCA; antiproteinase 3). C26912 Vasculitis C90259 NICHD Terminology C34440 Bulimia Nervosa Bulimia Nervosa Bulimia A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image. Recurrent episodes of over-eating. C89332 Eating Disorder C90259 NICHD Terminology C34441 Burn Burn A traumatic injury involving interruption of tissue cohesiveness that results from exposure to caustic chemicals, extreme heat, extreme cold or excessive radiation. A traumatic injury involving interruption of tissue cohesiveness that results from exposure to caustic chemicals, extreme heat, extreme cold or excessive radiation. C3671 Injury C90259 NICHD Terminology C3445 Weight Loss Weight Loss Weight Decrease A reduction in total body weight. A reduction in total body weight. C100104 Sign or Symptom C90259 NICHD Terminology C34456 Central Retinal Artery Occlusion Central Retinal Artery Occlusion Blockage of the central retinal artery. Occlusion of central retinal artery. C26875 Retinal Disorder C90259 NICHD Terminology C34458 Intracranial Aneurysm Intracranial Aneurysm A congenital or acquired aneurysm within the cranium. C26693 Aneurysm C90259 NICHD Terminology C3446 Idiopathic Thrombocytopenic Purpura Immune Thrombocytopenic Purpura ITP || Idiopathic Thrombocytopenic Purpura An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin. Disorder characterized by abnormally low level of circulating platelets, usually with normal hemoglobin/red blood cell and white blood cell levels, and thought to be secondary to autoimmune destruction. C3991 Immune Thrombocytopenia C3408 Thrombocytopenia C90259 NICHD Terminology C34460 Cerebral Palsy Cerebral Palsy A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain. A non-progressive, neurological syndrome presenting in infancy or early childhood that is caused by brain injury or malformation and is characterized by permanent impairment of muscle coordination and various movement disorders. C26835 Nervous System Disorder C89328 Pediatric Disorder C90259 NICHD Terminology C34465 Cholecystitis Cholecystitis An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones. Inflammation of the gallbladder. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C34476 Chronic Iridocyclitis Chronic Uveitis Chronic Iridocyclitis Uveitis that is usually insidious in onset, bilateral, and can be asymptomatic, most often affecting the anterior uveal tract, including the iris and ciliary body, and can result in long-term complications. It is most commonly associated with certain forms of juvenile idiopathic arthritis, but may occur independent of arthritis. Uveitis that is usually insidious in onset, bilateral, and can be asymptomatic. Usually affects the anterior uveal tract including the iris and ciliary body, and can result in long-term complications. Most commonly associated with certain forms of juvenile idiopathic arthritis but may occur independent of arthritis. C26909 Uveitis C90259 NICHD Terminology C34478 Cor Pulmonale Cor Pulmonale Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure. C95834 Congenital Heart Disease C90259 NICHD Terminology C3448 Wiskott-Aldrich Syndrome Wiskott-Aldrich Syndrome A rare, X-linked immunodeficiency syndrome characterized by eczema, thrombocytopenia, and recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IgM levels are low and IgA and IgE levels are elevated. Lymphoreticular malignancies are common. A rare, X-linked immunodeficiency syndrome characterized by eczema, thrombocytopenia, and recurrent pyogenic infection. Typically, IgM levels are low and IgA and IgE levels are elevated. Lymphoreticular malignancies are common. C3266 Hereditary Neoplastic Syndrome C3507 Immune System Disorder C90259 NICHD Terminology C34483 Scar Scar A permanent mark left on the skin in the process of wound healing. A permanent mark left on the skin in the process of wound healing. C36281 Integumentary System Finding C90259 NICHD Terminology C34484 Clonus Clonus A form of involuntary muscular movement characterized by alternating contractions and relaxation in rapid succession. In the context of reflex testing, the ability to elicit clonus indicates injury to the nerve tracts above the point at which the reflex was initiated. C100104 Sign or Symptom C90259 NICHD Terminology C34491 Clubbing of Fingers Clubbing of Fingers Finger Clubbing An abnormal enlargement of the terminal phalanges accompanied by increased length-wise curvature of the nails, giving the digits a club-like appearance. Clubbing has been noted with a wide variety of conditions, including pulmonary and cardiac diseases, liver disorders, and disorders of the gastrointestinal tract. C100104 Sign or Symptom C90259 NICHD Terminology C34497 Coma Coma A state of profound unconsciousness associated with markedly depressed cerebral activity. Causes include central nervous system damage, intoxication, and metabolic abnormalities. Prolonged unconsciousness. C87124 Central Nervous System Signs and Symptoms C90259 NICHD Terminology C34501 Communicating Hydrocephalus Communicating Hydrocephalus Non-Obstructive Hydrocephalus An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations. An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations. C3111 Hydrocephalus C90259 NICHD Terminology C34504 Conjunctivitis Conjunctivitis Pink Eye Inflammation of the conjunctiva of the eye. Inflammation of the mucous membrane that covers the front of the eye and lines the inside of the eyelids. C26767 Eye Disorder C90259 NICHD Terminology C34509 Viral Conjunctivitis Viral Conjunctivitis Conjunctivitis resulting from viral infection. Conjunctivitis that is caused by a virus. C83508 Infectious Conjunctivitis C3439 Viral Infection C90259 NICHD Terminology C3451 Juvenile Xanthogranuloma Juvenile Xanthogranuloma JXG A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules. A macrophage disorder that occurs during childhood; it is distinct from Langerhans cell histiocytosis, and is characterized by cutaneous papules and nodules (most often in the head and neck). C26323 Hematologic Disorder C90259 NICHD Terminology C34510 Conn Syndrome Conn Syndrome An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache. Primary hyperaldosteronism caused by an aldosterone-secreting adenoma. C28193 Syndrome C90259 NICHD Terminology C34518 Cri du Chat Syndrome Cri du Chat Syndrome 5p Partial Monosomy Syndrome || Cri-du-Chat Syndrome A genetic syndrome resulting from a partial deletion on the short arm of chromosome 5. It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure. C2950 Chromosomal Abnormality C90259 NICHD Terminology C34520 Cysticercosis Cysticercosis A parasitic infection caused by the larval form of Taenia solium. It is a disseminated infection affecting the central nervous system, subcutaneous tissues, lungs, heart and liver. The most serious complications result from infection of the brain parenchyma. Patients may develop seizures, hydrocephalus, encephalopathy and meningoencephalitis. A disseminated infection of tissues or organs that is caused by the larval stage of Taenia solium. C27864 Parasitic Infection C35803 Zoonotic Infection C90259 NICHD Terminology C34527 Demyelinating Disorder Demyelinating Disorder A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase travelling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others. C26835 Nervous System Disorder C90259 NICHD Terminology C34528 Dengue Fever Dengue Break Bone Fever || Dengue Fever An acute infection caused by Dengue virus. Signs and symptoms include sudden onset of fever, headache, rash, arthralgia, and myalgia. It is transmitted through mosquitoes. An infection that is caused by the dengue virus, which is transmitted to humans by mosquitoes, and which is characterized by sudden onset of fever, headache, rash, arthralgia, and myalgia. Occasionally, patients develop either dengue hemorrhagic fever (DHF), a more severe form of the disease that is characterized by plasma leakage due to increased vascular permeability, or dengue shock syndrome (DSS), which can cause circulatory collapse and possibly death. C3439 Viral Infection C90259 NICHD Terminology C34538 Diabetic Retinopathy Diabetic Retinopathy A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness. Disorder of the retina due to diabetes. C62601 Retinopathy C90259 NICHD Terminology C34541 Diphtheria Diphtheria A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects. A toxicoinfection that is caused by Corynebacterium diphtheriae; it predominantly involves the upper respiratory tract, where pseudomembranes are characteristic. Cutaneous diphtheria, toxic myocardiopathy, and toxic neuropathy also can occur. C2890 Bacterial Infection C90259 NICHD Terminology C3455 Arachnoid Cyst Arachnoid Cyst An intracranial or spinal cyst which contains fluid and is composed of arachnoid cells. Intracranial arachnoid cysts may present with headaches, seizures and hydrocephalus. Spinal arachnoid cysts may present with symptoms of radiculopathy. C2978 Cyst C90259 NICHD Terminology C34553 Dry Eye Syndrome Dry Eye A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye. Breakdown of the tear film, resulting in decreased lubrication of the cornea and/or conjunctiva. C26767 Eye Disorder C90259 NICHD Terminology C34554 Dwarfism Dwarfism Short stature that usually results from genetic mutations. Other causes include hormonal deficiencies and poor nutrition. C89330 Developmental Disorder C3009 Endocrine System Disorder C90259 NICHD Terminology C34559 Dysmenorrhea Dysmenorrhea Abnormally painful abdominal cramps during menstruation. Pain with menstruation. C36285 Endocrine System Finding C90259 NICHD Terminology C34563 Dystonia Dystonia A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures. A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures. C116757 Movement Disorders C90259 NICHD Terminology C34568 Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome An inherited connective tissue disorder characterized by loose and fragile skin and joint hypermobility. C97075 Hereditary Connective Tissue Disorder C90259 NICHD Terminology C34571 Pulmonary Interstitial Emphysema Pulmonary Interstitial Emphysema Interstitial Emphysema of Lung || PIE Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome. Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome. C3198 Lung Disorder C90259 NICHD Terminology C34572 Empyema Empyema An accumulation of pus in a body cavity, usually the pleural space. An accumulation of pus in a body cavity, usually the pleural space. C26871 Respiratory System Disorder C90259 NICHD Terminology C34578 Acute Disseminated Encephalomyelitis Acute Disseminated Encephalomyelitis ADEM An inflammatory process affecting the central nervous system. It is characterized by perivascular demyelination. Symptoms usually follow an acute viral infection or immunization and include fever, confusion, somnolence and involuntary movements. It may lead to coma and death. Transitory inflammation of the brain and spinal cord that is associated with demyelination with or without neuronal damage. C34580 Encephalomyelitis C90259 NICHD Terminology C34580 Encephalomyelitis Encephalomyelitis Inflammation of the brain and the spinal cord. Inflammation of the brain and spinal cord. C2934 Central Nervous System Disorder C90259 NICHD Terminology C34582 Endocarditis Endocarditis Inflammation of the endocardium. Inflammation of the endocardium. C3079 Heart Disorder C90259 NICHD Terminology C34583 Subacute Bacterial Endocarditis Subacute Bacterial Endocarditis Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between "acute" and "subacute" endocarditis has traditionally been made based on the pathogenic organism and clinical presentation. Chronic infection of the endocardium or heart valves. C34582 Endocarditis C90259 NICHD Terminology C34586 Endophthalmitis Endophthalmitis An infectious process affecting the internal structures of the eye. Inflammation of the intraocular space, usually due to infection. C26767 Eye Disorder C90259 NICHD Terminology C34596 Internal Strabismus Internal Strabismus Esotropia A form of strabismus in which one or both eyes are deviated medially. A form of strabismus in which one or both eyes are deviated medially. C100104 Sign or Symptom C90259 NICHD Terminology C34598 Euphoria Euphoria An exaggerated feeling of well-being which is disproportionate to events and stimuli. It may result from psychological causes, organic brain syndromes, or toxic states. Abnormally excessive and unfounded elevation in mood. C87124 Central Nervous System Signs and Symptoms C90259 NICHD Terminology C34599 Excoriation Excoriation Excoriation of Skin Self-inflicted tearing or wearing off of skin. Self-inflicted tearing or wearing off of skin. C36281 Integumentary System Finding C100104 Sign or Symptom C90259 NICHD Terminology C34602 Ocular Injury Ocular Injury Injury of Eye Region Damage to the eye. C3671 Injury C90259 NICHD Terminology C34606 Fasciculation Fasciculation Muscle Twitching The involuntary trembling of one or more muscles. The involuntary trembling of one or more muscles. C36280 Nervous System Finding C90259 NICHD Terminology C34610 Polyostotic Fibrous Dysplasia Polyostotic Fibrous Dysplasia Polyostotic Fibrous Dysplasia of Bone Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome. C3101 Genetic Disorder C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C34611 Filariasis Filariasis Infection by filarial worms. Infections with nematodes of the superfamily Filarioidea that is of global importance. The presence of living worms in the body is mainly asymptomatic, but the death of adult worms leads to granulomatous inflammation and fibrosis. C27864 Parasitic Infection C35803 Zoonotic Infection C90259 NICHD Terminology C34623 Closed Fracture Closed Fracture A traumatic break to the bone in which the continuity of the bone has not broken through the skin. A traumatic break to the bone in which the continuity of the bone has not broken through the skin. C3046 Fracture C90259 NICHD Terminology C34624 Open Fracture Open Fracture A traumatic break to the bone in which the continuity of the bone has broken through the skin. A traumatic break to the bone in which the continuity of the bone has broken through the skin . C3046 Fracture C90259 NICHD Terminology C34630 Gagging Gagging The sudden, coordinated, involuntary contraction of pharyngeal muscles in an attempt to prevent any matter from passing into the posterior pharynx; it is stimulated by touching the posterior palate, tongue, or pharynx, or by psychic stimuli. The sudden, coordinated, involuntary contraction of pharyngeal muscles in an attempt to prevent any matter from passing into the posterior pharynx; it is stimulated by touching the posterior palate, tongue, or pharynx, or by psychic stimuli. C100104 Sign or Symptom C90259 NICHD Terminology C34632 Gastroenteritis Gastroenteritis An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting. Inflammation of the stomach and small intestine. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C34636 Gingivitis Gingivitis A disorder involving inflammation of the gums; may affect surrounding and supporting structures of the teeth. Inflammation of the gums. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C34638 Glanders Glanders A condition resulting from infection by Burkholderia mallei, which mainly affects horses. A zoonotic infection that is caused by Burkholderia mallei, and that, in humans, may manifest in acute or chronic forms. C35803 Zoonotic Infection C2890 Bacterial Infection C90259 NICHD Terminology C34639 Angle Closure Glaucoma Closed Angle Glaucoma Angle Closure Glaucoma The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity. Optic nerve damage secondary to appositional closure of the angle of the eye. C26782 Glaucoma C90259 NICHD Terminology C34641 Open Angle Glaucoma Open Angle Glaucoma Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage. Optic nerve damage secondary to chronic outflow obstruction. C26782 Glaucoma C90259 NICHD Terminology C34642 Globus Hystericus Globus Persistent or intermittent non-painful sensation of a lump or foreign body in the throat occurring between meals in the absence of dysphagia, odynophagia, evidence of gastroesophageal acid reflux, or histopathogically based esophageal motility disorders. Persistent or intermittent non-painful sensation of a lump or foreign body in the throat occurring between meals in the absence of dysphagia, odynophagia, evidence of gastroesophageal acid reflux, or histopathologically based esophageal motility disorders. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C34643 IgA Nephropathy IgA Nephropathy A chronic autoimmune glomerulonephritis characterized by the deposition of immunoglobulin A in the mesangium of the glomeruli. It is manifested with hematuria and mild proteinuria. Glomerulonephropathy characterized by mesangial deposition of IgA antibody in the glomerulus. It is often characterized by hematuria, which may include episodes of visible hematuria during acute illness, and/or proteinuria. C26784 Glomerulonephritis C90259 NICHD Terminology Berger's Disease C34644 Membranoproliferative Glomerulonephritis Membranoproliferative Glomerulonephritis Mesangiocapillary Glomerulonephritis Inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli. Proliferative glomerulonephritis characterized by mesangial hypercellularity, endocapillary proliferation and glomerular capillary wall remodeling. C26784 Glomerulonephritis C90259 NICHD Terminology C34645 Membranous Glomerulonephritis Membranous Nephropathy Membranous Glomerulonephropathy A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome. A condition characterized by thickening of the glomerular basement membrane, resulting from subepithelial or intramembranous immune complex deposition. C26784 Glomerulonephritis C90259 NICHD Terminology C34646 Glucose Intolerance Glucose Intolerance The inability to regulate blood glucose levels resulting in hyperglycemia. The impairment of glucose metabolism, which results in hyperglycemia. C36285 Endocrine System Finding C90259 NICHD Terminology C34660 Head Injury Head Injury Injury of Head A traumatic injury to the head. C3671 Injury C90259 NICHD Terminology C34661 Headache Headache Pain in various parts of the head, not confined to the area of distribution of any nerve. Head pain or discomfort. C87124 Central Nervous System Signs and Symptoms C90259 NICHD Terminology C34662 Central Hearing Loss Central Hearing Loss Hearing loss resulting from disorders of the central nervous system auditory pathways. Hearing loss resulting from disorders of the central nervous system auditory pathways. C35731 Hearing Loss C90259 NICHD Terminology C34664 Noise Induced Hearing Loss Noise-Induced Hearing Loss A condition in which a person loses the ability to hear due to exposure to high intensity sound. Hearing loss resulting from either chronic exposure to loud noises, or exposure to extremely loud bursts of noise. C35731 Hearing Loss C90259 NICHD Terminology C34665 Heart Block by ECG Finding Heart Block Conduction Block || Heart Block by ECG Finding An electrocardiographic finding of blocked cardiac electrical impulses along the fibers normally responsible for impulse conduction. An electrocardiographic finding of disturbance, delay, or interruption of cardiac electrical impulses along the fibers normally responsible for impulse conduction. C2881 Arrhythmia C90259 NICHD Terminology C34670 Heartburn Heartburn Abdominal discomfort with retrosternal pain usually associated with gastroesophageal reflux.. Abdominal discomfort with retrosternal pain usually associated with gastroesophageal reflux. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C34674 Hemimelia Hemimelia A congenital malformation characterized by the partial or total absence of the distal half of a limb. C89337 Congenital Musculoskeletal Defect C90259 NICHD Terminology C34675 Hemoglobin C Disease Hemoglobin C Disease An autosomal recessive hemoglobinopathy with a mild clinical course. Most patients are asymptomatic. When symptoms appear, they include mild hemolytic anemia and occasionally jaundice. An autosomal recessive disorder resulting from the production of hemoglobin C, secondary to an amino acid substitution of lysine for glutamic acid in the sixth position of the beta chain (E6K), and characterized by mild hemolytic anemia and occasionally jaundice, though most patients are asymptomatic. C3092 Hemoglobinopathy C90259 NICHD Terminology C34676 Sickle Cell-Hemoglobin C Disease Hemoglobin SC Disease Sickle Cell-Hemoglobin C Disease A hemoglobinopathy that is considered a hybrid of sickle cell disease and hemoglobin C disease. Patients present with the symptoms of sickle cell disease but the latter are less frequent and severe compared to sickle cell disease. A variant of sickle cell disease due to heterozygosity for hemoglobin S and hemoglobin C mutations. Patients present with the symptoms of sickle cell disease but the symptoms are less frequent and severe compared to patients with full sickle cell disease. C34383 Sickle Cell Disease C3092 Hemoglobinopathy C90259 NICHD Terminology C34677 Hemoglobinuria Hemoglobinuria A laboratory test result which indicates free hemoglobin in the urine. The presence of hemoglobin in the urine. C3149 Kidney Disease C90259 NICHD Terminology C34682 Congo-Crimean Hemorrhagic Fever Crimean-Congo Hemorrhagic Fever CCHF A tick borne hemorrhagic fever resulting from infection by Nairovirus. A viral hemorrhagic fever that is caused by the Crimean-Congo hemorrhagic fever virus, which is transmitted by ticks and infected humans. C36170 Viral Hemorrhagic Fever C35803 Zoonotic Infection C90259 NICHD Terminology C34685 Hernia Hernia The protrusion of part of an organ or fibroadipose tissue through an abnormal opening. C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C34687 Diaphragmatic Hernia Diaphragmatic Hernia A congenital or acquired weakness or opening in the diaphragm which allows abdominal contents to protrude into the chest cavity; congenital diaphragmatic hernias are caused when the embryonic diaphragm fails to fuse. C34685 Hernia C90259 NICHD Terminology C34690 Inguinal Hernia Inguinal Hernia The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region. The protrusion of the contents of the abdominal cavity into the inguinal canal. C34685 Hernia C90259 NICHD Terminology C34691 Direct Inguinal Hernia Direct Inguinal Hernia A protrusion of the abdominal cavity contents into the inguinal canal through the superficial inguinal ring. The protrusion of abdominal cavity contents into the inguinal canal, medial to the inferior epigastric vessels. C34690 Inguinal Hernia C90259 NICHD Terminology C34692 Indirect Inguinal Hernia Indirect Inguinal Hernia A protrusion of the abdominal cavity contents into the inguinal canal through the deep and superficial inguinal rings. The protrusion of abdominal cavity contents into the inguinal canal, lateral to the inferior epigastric vessels. C34690 Inguinal Hernia C90259 NICHD Terminology C34698 Hip Dislocation Hip Dislocation Dislocated Hip || Dislocation of Hip Joint A congenital or traumatic abnormality in which the femoral head slips out of the acetabulum. C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C34700 Hirschsprung Disease Hirschsprung Disease Hirschsprung's Disease A congenital disorder characterized by the absence of myenteric ganglion cells in the distal colon. It results in a functional stenosis of the distal colon and a massive distention of the proximal colon. C97171 Congenital Gastrointestinal Disorder C90259 NICHD Terminology C34702 Hookworm Infection Hookworm Infection An infection that is caused by hookworms. A nematode infection due to Ancylostoma species or Necator americanus. Prevalence and species vary by country. The infection is acquired by larval penetration of the skin, which causes intense pruritus (ground itch), and is followed by a pulmonary migratory phase; adult worms reside in the gastrointestinal tract, where feeding can lead to blood loss, iron deficiency anemia, and sometimes nutritional deficiencies. C27864 Parasitic Infection C90259 NICHD Terminology C34703 Hyperalgesia Hyperalgesia Abnormally increased pain sense. Abnormally increased pain sense. C100104 Sign or Symptom C90259 NICHD Terminology C34706 Hyperactivity Hyperactivity Increased motor activity that is not goal directed. Increased motor activity that is not goal directed. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C34717 Hypogalactia Hypogalactia Decreased secretion of breast milk. Decreased secretion of breast milk. C3009 Endocrine System Disorder C90259 NICHD Terminology C34718 Hypohidrosis Hypohidrosis Reduced sweating. Causes include burns, dehydration, radiation, and leprosy. Abnormally diminished sweating. C36281 Integumentary System Finding C90259 NICHD Terminology C3472 Severe Combined Immunodeficiency Severe Combined Immunodeficiency X-linked or autosomal recessive disorder characterized by defects of both humoral and cell mediated immunity, resulting in low or absent antibody levels, leukopenia, marked susceptibility to infections, and early death.--2004 X-linked or autosomal recessive disorder characterized by defects of both humoral and cell mediated immunity, resulting in low or absent antibody levels, leukopenia, marked susceptibility to infections, and early death.--2004 C3507 Immune System Disorder C90259 NICHD Terminology C34724 Low Birth Weight Low Birth Weight A birth weight that is less than 2500 grams. Birth weight less than 2500 grams. C76325 Birth Weight C90259 NICHD Terminology C34726 Infectious Mononucleosis Infectious Mononucleosis Mono A condition characterized by an increase in mononuclear white blood cells and swollen lymph nodes, which is usually caused by infection with the Epstein-Barr virus. A clinical syndrome of fever, sore throat, fatigue, and lymphadenopathy. Epstein-Barr virus is the predominant cause. C3439 Viral Infection C90259 NICHD Terminology C34732 Intestinal Fistula Intestinal Fistula Fistula of Intestine An abnormal communication between the small or large intestine and another organ or cavity. C78319 Gastrointestinal Fistula C90259 NICHD Terminology C34748 Palmoplantar Keratoderma Palmoplantar Keratoderma A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis. A group of skin disorders characterized by thickening of the palms and soles due to hyperkeratosis. C3371 Skin Disorder C90259 NICHD Terminology C34749 Acute Tubular Necrosis Acute Tubular Necrosis Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics. Damage to the renal tubular epithelial cells resulting in acute kidney injury. C3149 Kidney Disease C90259 NICHD Terminology C34750 Cystic Kidney Disease Cystic Kidney Disease A congenital or acquired kidney disorder characterized by the presence of renal cysts. A congenital or acquired kidney disorder characterized by the presence of renal cysts. C3149 Kidney Disease C90259 NICHD Terminology C34751 Medullary Sponge Kidney Medullary Sponge Kidney A developmental disorder of the kidney characterized by cystic dilatation of the medullary collecting ducts, resulting in a spongy gross appearance of the kidney. It may be asymptomatic or complicated by hematuria, infections, or renal stones. A congenital renal disorder characterized by dilatation and dysplasia of the medullary and papillary portions of the collecting ducts, usually resulting in the formation of medullary cysts and nephrocalcinosis. C34750 Cystic Kidney Disease C90259 NICHD Terminology C34752 Klinefelter Syndrome Klinefelter Syndrome 47,XXY Syndrome || Klinefelter's Syndrome, XXY A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present. A condition caused by the presence of an extra X chromosome resulting in 47,XXY karyotype in an individual with male phenotype. The condition is characterized in childhood by relative tall stature with disproportionately long limbs, and speech/language developmental problems in some patients. Postpubertal findings include small testes, gynecomastia, and infertility. C2950 Chromosomal Abnormality C90259 NICHD Terminology C34754 Kyphosis Kyphosis Abnormally increased curvature of the thoracic portion of the spine. Abnormally increased curvature of the thoracic portion of the spine. C110937 Musculoskeletal Finding C90259 NICHD Terminology C34767 Leishmaniasis Leishmaniasis A parasitic infection caused by protozoa of the genus Leishmania. It is transmitted to humans via the bite of sandflies. There are three main forms of the disease: cutaneous, mucocutaneous, and visceral leishmaniasis. Cutaneous leishmaniasis causes skin ulcers; mucocutaneous leishmaniasis causes destructive lesions of the mucous membranes of the nose, mouth, and throat; visceral leishmaniasis is the most severe form of the disease and is manifested with anemia, weight loss, hepatomegaly and splenomegaly. A protozoan infection that is caused by members of the genus Leishmania, which is transmitted to humans via the bite of sandflies. There are three main forms of the disease: cutaneous, mucocutaneous, and visceral. C34953 Protozoal Infection C35803 Zoonotic Infection C90259 NICHD Terminology C3477 Bacillary Angiomatosis Bacillary Angiomatosis A condition that is caused by infection with Bartonella, and which is characterized by vascular proliferation, usually in immunocompromised individuals. An infection that is caused by Bartonella henselae or Bartonella quintana, which occurs primarily in immunocompromised persons; it is characterized by vascular lesions in the skin, subcutaneous tissue, bone, or other organs. C35803 Zoonotic Infection C2890 Bacterial Infection C90259 NICHD Terminology C34780 Lichenoid Drug Eruption Lichenoid Drug Eruption Drug-induced Lichen Planus A red or violaceous flat-topped, papular eruption that is induced by exposure to a variety of medications or environmental agents. A red or purple flat-topped, papular eruption that is induced by exposure to a variety of medications or environmental agents. C36281 Integumentary System Finding C90259 NICHD Terminology C34781 Spastic Diplegia Spastic Diplegia A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy. A type of spastic cerebral palsy characterized by increased muscle tone of the lower extremities bilaterally, particularly the legs, hips, and pelvis. C34460 Cerebral Palsy C90259 NICHD Terminology C34784 Loiasis Loiasis Infection by the African eye worm, Loa loa. An infection that is caused by the nematode Loa loa, which is contracted via the bite of a deer fly. In temporary residents of endemic areas, the most common clinical manifestation is Calabar swelling (localized angioedema), typically on the extremities. Infected permanent residents of endemic areas typically manifest eye disease related to wandering of the adult worm. Encephalopathy, cardiomyopathy, and renal disease are related to microfilaraemia. C27864 Parasitic Infection C90259 NICHD Terminology C34786 Long QT Syndrome Long QT Syndrome A ventricular arrhythmia characterized by a long QT interval, and accompanied by syncopal episodes sometimes leading to sudden death due to paroxysmal ventricular arrhythmia. This arrhythmia is associated with a prolongation of repolarization following depolarization of the cardiac ventricles. The prolongation of the Q-T interval combined with torsades de pointes manifests as several different forms; some may be acquired or congenital; some may lead to serious arrhythmia and sudden cardiac death. A syndrome characterized by a propensity to develop life-threatening arrhythmias usually in the context of a prolonged corrected QT interval. C95834 Congenital Heart Disease C90259 NICHD Terminology C34787 Lordosis Lordosis Abnormally increased curvature of the lumbar portion of the spinal column. Abnormally increased curvature of the cervical or lumbar portion of the spine. C110937 Musculoskeletal Finding C90259 NICHD Terminology C34789 Lupus Glomerulonephritis Lupus Glomerulonephritis Lupus Nephritis || SLE Nephritis Glomerulonephritis in the context of systemic lupus erythematosus. Glomerulonephritis in the context of systemic lupus erythematosus. C3149 Kidney Disease C90259 NICHD Terminology C34791 Lymphocytosis Lymphocytosis A laboratory test result indicating an abnormal increase in the number of lymphocytes in the peripheral blood, effusions, or bone marrow. Abnormally high level of lymphocytes in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C34794 Cystoid Macular Edema Cystoid Macular Edema An accumulation of fluid in the outer plexiform layer, secondary to an increase in permeability of perifoveal retinal capillaries. An accumulation of fluid in the outer plexiform layer, secondary to an increase in permeability of perifoveal retinal capillaries. C99208 Eye Finding C90259 NICHD Terminology C34797 Malaria Malaria A protozoan infection caused by the genus Plasmodium. There are four species of Plasmodium that can infect humans: Plasmodium falciparum, vivax, ovale, and malariae. It is transmitted to humans by infected mosquitoes. Signs and symptoms include paroxysmal high fever, sweating, chills, and anemia. Plasmodium parasite infection, characterized by fever, flu-like symptoms, anemia, and jaundice, that may be transmitted through infected mosquito bites, blood transfusion, organ transplant, contaminated needles or syringes, or before or during birth. C34953 Protozoal Infection C90259 NICHD Terminology C3480 Lobular Hemangioma Pyogenic Granuloma Lobular Capillary Hemangioma A friable, benign vascular neoplasm with lobular capillary architecture that presents as a raised red skin growth. A friable, benign vascular neoplasm with lobular capillary architecture that presents as a raised red skin growth. C3085 Hemangioma C90259 NICHD Terminology C34801 Male Erectile Disorder Erectile Dysfunction A disorder characterized by the persistent or recurrent inability to achieve or to maintain an erection during sexual activity. The inability to attain or maintain an erection for satisfactory sexual intercourse. C27019 Male Reproductive System Disorder C90259 NICHD Terminology C34803 Primary Malignant Liver Neoplasm Primary Malignant Liver Neoplasm Primary Malignant Neoplasm of Liver An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma. C9305 Cancer C90259 NICHD Terminology C34806 Maple Syrup Urine Disease Maple Syrup Urine Disease An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death. C3101 Genetic Disorder C90259 NICHD Terminology C34807 Marfan Syndrome Marfan Syndrome Marfan's Syndrome A genetic syndrome inherited as an autosomal dominant trait. It is caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. An autosomal dominant condition caused by mutation(s) in the FBN1 gene, encoding fibrillin-1. This condition is characterized by tall stature, disproportionately long limbs, arachnodactyly, and hyperextensible joints; additional features may include scoliosis, kyphosis, pectus excavatum/carinatum, mitral valve prolapse, aortic dilatation, aortic dissection, and upward subluxation of one or both ocular lens. C97075 Hereditary Connective Tissue Disorder C3101 Genetic Disorder C90259 NICHD Terminology C34808 Mass Mass A benign or malignant pathologic structure in any part of the body, resulting from a neoplastic accumulation of cells, inflammatory cells, or cystic changes. A benign or malignant pathologic structure in any part of the body, resulting from a neoplastic accumulation of cells, inflammation, or cystic changes. C3262 Neoplasm C90259 NICHD Terminology C34813 Meningoencephalitis Meningoencephalitis Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan. Inflammation of the meninges and brain. C27582 Central Nervous System Infectious Disease C90259 NICHD Terminology C34815 Menstrual Disorder Menstrual Problem A category of conditions related to menses. Category of disorders related to menstruation. C27020 Female Reproductive System Disorder C90259 NICHD Terminology C34816 Congenital Metabolic Disorder Congenital Metabolic Disorder Inborn Error of Metabolism A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. C3235 Metabolic Disease C97151 Congenital Systemic Disorder C90259 NICHD Terminology C34817 Methemoglobinemia Methemoglobinemia An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood. An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood. C26323 Hematologic Disorder C90259 NICHD Terminology C34820 Miliaria Miliaria Heat Rash || Prickly Heat A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands. A small (one mm or less), vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands. C3371 Skin Disorder C90259 NICHD Terminology C34825 Kawasaki Disease Kawasaki Disease Infantile Polyarteritis Nodosa || Mucocutaneous Lymph Node Syndrome A vasculitis characterized by inflammation of the arteries, particularly the coronary arteries. The vasculitis may lead to aneurysm formation and possibly, heart attacks. It affects young children who usually present with persistent high fever, redness of the mucous membranes of the mouth, redness of the palms and soles, skin rashes, lymphadenitis, and joint pain and swelling. Medium-sized vessel vasculitis seen primarily in young children with predilection for the coronary arteries. Diagnosis is based on clinical findings of persistent high fever, changes in lips and oral mucous membranes, erythema and edema of hands/feet and later desquamation, bilateral bulbar conjunctivitis, unilateral cervical adenopathy, polymorphous rash. C26912 Vasculitis C90259 NICHD Terminology C34827 Muscle Cramp Muscle Cramping Spasm A sustained, sudden and involuntary contraction of a muscle or group of muscles. Sudden and involuntary contraction of a muscle or group of muscles. C110937 Musculoskeletal Finding C90259 NICHD Terminology C34830 Cardiomyopathy Cardiomyopathy A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. A disease of the heart muscle. C3079 Heart Disorder C101216 Myopathy C90259 NICHD Terminology C34831 Myocarditis Myocarditis Inflammation of the muscle tissue of the heart. Inflammation of the myocardium. C3079 Heart Disorder C90259 NICHD Terminology C34832 Myoclonic Jerk Myoclonic Jerk A sudden, involuntary contraction of a muscle or group of muscles; these movements may develop as a symptom of a number of neurological diseases, including epilepsy, Parkinson's disease, Alzheimer's disease, or Creutzfeldt-Jacob disease. A sudden, involuntary contraction of a muscle or group of muscles; these movements may develop as a symptom of a number of neurological diseases, including epilepsy, Parkinson's disease, Alzheimer's disease, or Creutzfeldt-Jacob disease. C100104 Sign or Symptom C90259 NICHD Terminology C34837 Nasopharyngitis Nasopharyngitis An inflammatory process that affects the nasopharynx. Inflammation of the nasopharynx. C118420 Otolaryngologic Disorder C90259 NICHD Terminology C34842 Alport Syndrome Alport Syndrome A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities. A genetic syndrome caused by abnormalities in the COL4A5 gene that is characterized by hematuria, progressive renal insufficiency, and, in some cases, hearing loss and ocular abnormalities. C28193 Syndrome C90259 NICHD Terminology C34843 Nephropathy Nephropathy A term referring to any disease affecting the kidneys. Disorders affecting the kidney, including inflammatory and non-inflammatory conditions. C3149 Kidney Disease C90259 NICHD Terminology C34844 Minimal Change Glomerulonephritis Minimal Change Disease Minimal Change Nephropathy A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome. Nephrotic syndrome that demonstrates little histologic evidence of pathology by light microscopy; ultra-structural change is evident under electron microscopy, demonstrating diffuse effacement and fusion of podocyte processes. C26784 Glomerulonephritis C90259 NICHD Terminology Lipoid Nephrosis || Nil Disease C34845 Nephrotic Syndrome Nephrotic Syndrome Nephrosis A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction. A syndrome characterized by proteinuria, hypoalbuminemia, and varying degrees of edema, and possibly hypercholesteremia. C3149 Kidney Disease C90259 NICHD Terminology C34850 Night Blindness Night Blindness Nyctalopia Inability to see clearly in dim light. Poor visual function in dim light. C97109 Blindness C90259 NICHD Terminology C34854 Noonan Syndrome Noonan Syndrome Noonan's Syndrome A genetic syndrome caused by mutations in the PTPN11 gene (over 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function. A predominantly autosomal dominant condition typically caused by mutation(s) in genes encoding proteins involved in the RAS-MAP kinase pathway, disrupting the regulation of cell growth and division. The condition is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, pectus excavatum/carinatum, right sided cardiac anomalies (pulmonary stenosis, hypertrophic cardiomyopathy), bleeding disorders, and an increased risk of leukemia. Fifty percent of individuals with Noonan syndrome have mutation(s) in the PTPN11 gene, encoding tyrosine-protein phosphatase non-receptor type 11. C3101 Genetic Disorder C90259 NICHD Terminology C34857 Numbness Numbness A loss of the sensation of feeling in an area of the body. A loss of the sensation of feeling in an area of the body. C100104 Sign or Symptom C90259 NICHD Terminology C34860 Oligospermia Oligospermia Low Sperm Count Decreased number of spermatozoa in the semen. Decreased number of spermatozoa in the semen. C36285 Endocrine System Finding C90259 NICHD Terminology C34861 Onchocerciasis Onchocerciasis River Blindness A disease caused by infection with Onchocerca volvulus; symptoms may include pruritis and blindness. An infection that is caused by the nematode Onchocerca volvulus, which most commonly occurs in tropical climates, and which is transmitted by bites from a black fly. Symptoms include intense pruritus, inflammation, and swelling of skin; if the larvae migrate to the eye, blindness can occur. C27864 Parasitic Infection C90259 NICHD Terminology C34880 Bone Necrosis Osteonecrosis Death of bone tissue due to traumatic or nontraumatic causes. Death of bone tissue. C110937 Musculoskeletal Finding C90259 NICHD Terminology C34882 Rheumatic Heart Disease Rheumatic Heart Disease RHD An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction. A consequence of acute rheumatic fever that causes chronic cardiac valve damage and/or dysfunction. C3079 Heart Disorder C90259 NICHD Terminology C34885 Otitis Media Otitis Media Medial Otitis Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. Inflammation of the middle ear. C118420 Otolaryngologic Disorder C90259 NICHD Terminology C34886 Secretory Otitis Media Otitis Media with Effusion OME || Secretory Otitis Media || Serous Otitis Media Otitis media associated with accumulation of fluid in the middle ear. Otitis media that is associated with the accumulation of fluid in the middle ear without signs or symptoms of an acute infection. C34885 Otitis Media C90259 NICHD Terminology C34889 Pancytopenia Pancytopenia A finding of low numbers of red and white blood cells and platelets in the peripheral blood. Abnormally low level of red blood cells, white blood cells, and platelets in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C34891 Paracoccidioidomycosis Paracoccidioidomycosis A systemic fungal infection caused by Paracoccidioides brasiliensis that is most often seen in immunocompromised patients. It affects the mucous membranes, lymph nodes, lungs and bones. A systemic fungal infection that is caused by Paracoccidioides brasiliensis, which affects the mucous membranes, lymph nodes, lungs and bones, and which is most often seen in immunocompromised patients. C3245 Fungal Infection C90259 NICHD Terminology C34915 Pericarditis Pericarditis An inflammatory process affecting the pericardium. Inflammation of the pericardium, frequently manifested as chest pain, friction rub, pericardial effusion, or ST segment elevation on EKG. C101327 Pericardial Anomaly C90259 NICHD Terminology C3492 Enzyme Deficiency Enzyme Deficiency Specific Enzyme Deficiency A finding in which there is a subnormal amount of an enzyme. Enzymes are proteins that are necessary in certain catabolic processes. C3235 Metabolic Disease C90259 NICHD Terminology C34927 Social Anxiety Disorder Social Anxiety Disorder An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable. C2878 Anxiety Disorder C90259 NICHD Terminology C34928 Phocomelia Phocomelia A congenital malformation in which the upper portion of a limb is either shortened or absent. C89337 Congenital Musculoskeletal Defect C90259 NICHD Terminology C34932 Aspiration Pneumonitis Aspiration Pneumonitis Aspiration Pneumonia Inflammation of the lungs due to the inhalation of solid or liquid material. Inflammation of the lungs due to the inhalation of solid or liquid material. C113159 Pneumonitis C90259 NICHD Terminology C34938 Postoperative Hemorrhage Postoperative Hemorrhage Bleeding occurring after completion of a surgical procedure, which may occur immediately or may be delayed, and which may or may not be wound related. Bleeding occurring after completion of a surgical procedure, which may occur immediately or may be delayed, and which may or may not be wound related. C2959 Complication C90259 NICHD Terminology C34941 Pregnancy Complication Pregnancy Complication Complication Related to Pregnancy The co-occurrence of pregnancy and a disease. The disease may precede or follow conception and it may or may not have a deleterious effect on the pregnant woman or fetus. C2959 Complication C90259 NICHD Terminology C34942 Gestational Diabetes Gestational Diabetes Mellitus Carbohydrate intolerance first diagnosed during pregnancy. Carbohydrate intolerance first diagnosed during pregnancy. C35169 Pregnancy Disorder C2985 Diabetes Mellitus C90259 NICHD Terminology C34945 Ectopic Pregnancy Ectopic Pregnancy An abnormal pregnancy in which the conception is implanted outside the endometrial cavity. An abnormal pregnancy in which the conception is implanted outside the endometrial cavity. C35169 Pregnancy Disorder C90259 NICHD Terminology C34953 Protozoal Infection Protozoal Infection An infection that is caused by protozoans. C27864 Parasitic Infection C90259 NICHD Terminology C3496 Hypercalcemia of Malignancy Hypercalcemia of Malignancy Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function. Hypercalcemia due to a tumor production of parathyroid hormone-related protein or 1,25-dihydroxyvitamin D(3), or due to osteolytic metastases with local release of cytokines. C3112 Hypercalcemia C90259 NICHD Terminology C34963 Henoch-Schönlein Purpura Henoch-Schönlein Purpura HSP A systemic, usually self-limited immune complex vasculitis, characterized by immunoglobulin A deposition in the small vessels and kidneys. It is manifested with small hemorrhages in the skin, gastrointestinal symptoms, arthritis, and nephropathy. A systemic, usually self-limited immune complex vasculitis, characterized by immunoglobulin A deposition in the small vessels and kidneys. It is manifested with small hemorrhages in the skin, gastrointestinal symptoms, arthritis, and nephropathy. C2931 Cardiovascular Disorder C90259 NICHD Terminology C34965 Pyelonephritis Pyelonephritis An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion. An infection of the kidney. C2890 Bacterial Infection C3149 Kidney Disease C90259 NICHD Terminology C34966 Pyloric Stenosis Pyloric Stenosis Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer. Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C34970 Q Fever Q Fever A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness. An infection that is caused by Coxiella burnetii; it is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness. C35803 Zoonotic Infection C2890 Bacterial Infection C90259 NICHD Terminology C34971 Rat-Bite Fever Rat-Bite Fever Spirillosis || Streptobacillosis An infectious disease that is caused transmitted by the bite of a rat. Two species of bacteria can cause the infection: Streptobacillus moniliformis and Spirillum minus. An acute infection that is caused by Streptobacillus moniliformis (in North America) or Spirillum minus (in Asia), which is transmitted primarily by rodents; it is characterized by fever, myalgia, arthralgia, and petechial rash. When infections are acquired without a bite the resulting illness is called Haverhill Fever. C35803 Zoonotic Infection C2890 Bacterial Infection C90259 NICHD Terminology C34973 Rectal Prolapse Rectal Prolapse Protrusion of the rectum through the anus. Protrusion of the anus through the rectum. C36173 Prolapse C90259 NICHD Terminology C34974 Pure Red Cell Aplasia Pure Red Cell Aplasia PRCA A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia. A condition characterized by aplasia of the erythroid series only. The leukocytes and platelets are not affected. C26323 Hematologic Disorder C90259 NICHD Terminology C34976 Tick-Borne Relapsing Fever Tick-Borne Relapsing Fever An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated. An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated. C35803 Zoonotic Infection C2890 Bacterial Infection C90259 NICHD Terminology C34982 Retinopathy of Prematurity Retinopathy of Prematurity Retrolental Fibroplasia || Terry Syndrome A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia. A retinal condition of very immature infants that may be characterized by non-vascularized retina that may lead to neovascularization, scarring, retinal detachment, and blindness. C62601 Retinopathy C98996 Neonatal Disorder C90259 NICHD Terminology C34983 Reye Syndrome Reye Syndrome An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use. An acute and potentially fatal metabolic condition characterized by cerebral edema, fatty liver, and hypoglycemia. It occurs primarily in children, and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use. C28193 Syndrome C90259 NICHD Terminology C34984 Rheumatic Fever Rheumatic Fever ARF || Acute Rheumatic Fever An inflammatory disorder that follows infection with group A streptococcus. It affects the heart, joints, and subcutaneous tissues. It manifests with pericarditis, heart murmur, congestive heart failure, polyarthritis, subcutaneous nodules, and erythema marginatum. It is characterized by the formation of granulomatous lesions called Aschoff bodies usually in the heart tissue. An inflammatory disorder that follows infection with group A streptococcus. It may manifest with carditis, migratory polyarthritis, subcutaneous nodules, erythema marginatum, and chorea. C26726 Infectious Disorder C90259 NICHD Terminology C34986 Rhinitis Rhinitis An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge. Inflammation of the mucous membrane lining the nose. C118420 Otolaryngologic Disorder C90259 NICHD Terminology C34990 Rib Fracture Rib Fracture Fracture of Rib A traumatic or pathologic injury to the rib in which the continuity of the rib is broken. C3046 Fracture C90259 NICHD Terminology C34992 Congenital Rubella Congenital Rubella Syndrome A condition, whose clinical manifestations include intrauterine growth restriction, petechial rash, jaundice, generalized lymphadenopathy, hepatosplenomegaly, peripheral pulmonary stenosis, cataracts, and sensorineural deafness, that is caused by fetal exposure to the rubella virus during the first trimester of pregnancy. A condition, whose clinical manifestations include intrauterine growth restriction, petechial rash, jaundice, generalized lymphadenopathy, hepatosplenomegaly, peripheral pulmonary stenosis, cataracts, and sensorineural deafness, that is caused by fetal exposure to the rubella virus during the first trimester of pregnancy. C26726 Infectious Disorder C90259 NICHD Terminology C34995 Sarcoidosis Sarcoidosis Sarcoid An idiopathic inflammatory disorder characterized by the formation of non-necrotizing epithelioid granulomas which contain giant cells. It usually affects the lungs, lymph nodes, liver, and skin. Cardiac involvement is also possible. An inflammatory disorder characterized by the formation of non-necrotizing granulomas often associated with multi-nucleated giant cells within affected organs. Virtually all organs may be affected; however, it often affects the lungs, lymph nodes, liver, synovium, skin, heart, and uveal tract. C2889 Autoimmune Disease C90259 NICHD Terminology C34998 Scabies Scabies A contagious skin infection that is caused by the burrowing parasitic mite, Sarcoptes scabiei, and is characterized by intense itching and small, raised red spots in the area of the mite burrows. A contagious infestation that is caused by the burrowing parasitic mite, Sarcoptes scabiei; it is characterized by intense itching and small, raised red spots in the area of the mite burrows. C27864 Parasitic Infection C35803 Zoonotic Infection C90259 NICHD Terminology C35000 Schistosomiasis Schistosomiasis Bilharzia || Snail Fever A parasitic infection caused by flukes of the genus Schistosoma. Signs and symptoms include fever, abdominal pain, eosinophilia and hepatosplenomegaly. If left untreated it may eventually cause liver damage leading to cirrhosis, bladder cancer and kidney failure. Schistosoma parasite infection that is commonly seen in tropical and subtropical regions and may be transmitted through skin contact with contaminated freshwater. C27864 Parasitic Infection C90259 NICHD Terminology C35004 Childhood Schizophrenia Childhood Schizophrenia Schizophrenia occurring in childhood. C92190 Pediatric Psychiatric Disorder C90259 NICHD Terminology C35009 Sclerema Neonatorum Sclerema Neonatorum A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life. A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life. C98996 Neonatal Disorder C90259 NICHD Terminology C35014 Separation Anxiety Disorder Separation Anxiety Disorder An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning. C2878 Anxiety Disorder C92190 Pediatric Psychiatric Disorder C90259 NICHD Terminology C35016 Shock Shock A life-threatening condition that requires immediate medical intervention. It is characterized by reduced blood flow that may result in damage of multiple organs. Types of shock include cardiogenic, hemorrhagic, septic, anaphylactic, and traumatic shock. Profoundly reduced blood flow that results in impaired tissue perfusion and possible end organ damage. C2931 Cardiovascular Disorder C90259 NICHD Terminology C35018 Septic Shock Septic Shock A state of acute circulatory failure characterized by persistent arterial hypotension despite adequate fluid resuscitation or by tissue hypoperfusion unexplained by other causes. A state of acute circulatory failure characterized by persistent arterial hypotension despite adequate fluid resuscitation or by tissue hypoperfusion unexplained by other causes. C35016 Shock C90259 NICHD Terminology C3502 Thyroid Gland Follicular Adenoma Thyroid Adenoma A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics. A non-malignant neoplasm of the thyroid gland arising from epithelial cells. C3414 Thyroid Tumor C90259 NICHD Terminology C35024 Sinusitis Sinusitis An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity. Inflammation of the mucous membranes lining a sinus cavity. C118420 Otolaryngologic Disorder C26726 Infectious Disorder C90259 NICHD Terminology C35027 Smallpox Smallpox A condition that is caused by infection with Variola, and that is characterized by small, raised bumps. An infection that is caused by one of two viruses: Variola major or Variola minor, both of which are transmitted via inhalation of droplets. A vaccine was developed, and smallpox was declared eradicated by the WHO in 1979. C3439 Viral Infection C90259 NICHD Terminology C35040 Strabismus Strabismus Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected. C26767 Eye Disorder C90259 NICHD Terminology C35043 Stutter Stutter A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age. A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age. C100104 Sign or Symptom C90259 NICHD Terminology C35045 Subconjunctival Hemorrhage Subconjunctival Hemorrhage Blood between the conjunctiva and sclera. Blood between the conjunctiva and sclera. C26767 Eye Disorder C90259 NICHD Terminology C35046 Substance Withdrawal Syndrome Drug Withdrawal A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions. C9229 Systemic Disorder C90259 NICHD Terminology C35050 Surgical Wound Infection Surgical Wound Infection Infection of a surgical incision. Infection of a surgical incision. C128320 Infection C2959 Complication C90259 NICHD Terminology C35051 Diaphoresis Diaphoresis Profuse sweating. Profuse sweating. C100104 Sign or Symptom C90259 NICHD Terminology C35053 Syncope Syncope Fainting A spontaneous loss of consciousness caused by insufficient blood supply to the brain. Transitory loss of consciousness and postural tone. C100104 Sign or Symptom C90259 NICHD Terminology C35055 Syphilis Syphilis A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system. An infection that is caused by the spirochete Treponema pallidum. C3365 Sexually Transmitted Infection C26726 Infectious Disorder C90259 NICHD Terminology C35056 Latent Syphilis Latent Syphilis A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease. A stage of syphilis that occurs after the secondary stage, and that is characterized by the serologic evidence of infection without the evidence of accompanying signs or symptoms related to the disease. C35055 Syphilis C90259 NICHD Terminology C35057 Tabes Dorsalis Tabes Dorsalis A form of neurosyphilis characterized by slowly progressive degeneration of the spinal cord. Signs and symptoms include pain, ataxia, loss of coordination, personality changes, blindness, urinary incontinence, dementia, and degeneration of the joints. A form of neurosyphilis that is characterized by slowly progressive degeneration of the spinal cord. C84935 Neurosyphilis C90259 NICHD Terminology C35061 Supraventricular Tachycardia Supraventricular Tachycardia A disorder characterized by an electrocardiographic finding of a tachycardia which does not originate in the ventricles or His Purkinje system. There is an abnormally high heart rate and QRS complexes are typically narrow, but aberration or preexcitation may be present. (CDISC) A tachycardia originating in the atria of the heart. C110938 Tachyarrhythmia C90259 NICHD Terminology C35062 Takayasu Arteritis Takayasu Arteritis Pulseless Disease || Takayasu's Arteritis A large vessel vasculitis affecting the aorta and its branches. It usually affects young females. It causes vascular obstruction, resulting in asymmetric pulses. A large vessel granulomatous vasculitis affecting the aorta or its main branches and pulmonary arteries with angiographic findings of stenosis, occlusion, or aneurysm. Clinical findings include absent or asymmetric pulses (discrepancy in four limb blood pressure), bruits, hypertension, or elevation in acute phase reactants. C26912 Vasculitis C90259 NICHD Terminology C35069 Thalassemia Thalassemia An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation. An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation. C3092 Hemoglobinopathy C90259 NICHD Terminology C3507 Immune System Disorder Immune System Disorder Disorder of Immune System || Immune Disorder A disorder resulting from an abnormality in the immune system. C2991 Disease or Disorder C90259 NICHD Terminology C35071 Subacute Thyroiditis Subacute Thyroiditis Self-limited inflammation of the thyroid gland. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function. This category includes the subacute lymphocytic thyroiditis and subacute granulomatous thyroiditis. Self-limited thyroiditis presumed to be caused by a viral infection. C26894 Thyroiditis C90259 NICHD Terminology C35077 Dental Disorder Dental Disorder A non-neoplastic or neoplastic (benign or malignant) disorder affecting the teeth. C2991 Disease or Disorder C90259 NICHD Terminology C35078 Tourette Syndrome Tourette Syndrome Gilles de la Tourette syndrome || Tourette's Syndrome A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen. A neurological disorder presenting in childhood that is characterized by both motor and phonic tics that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause. C96412 Brain Development Abnormality C116757 Movement Disorders C90259 NICHD Terminology C35079 Tracheal Disorder Tracheal Disorder Disorder of Trachea A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma. C26871 Respiratory System Disorder C90259 NICHD Terminology C35080 Tracheoesophageal Fistula Tracheoesophageal Fistula A congenital or acquired abnormal communication between the trachea and the esophagus. C3045 Fistula C90259 NICHD Terminology C35082 Traumatic Subcutaneous Emphysema Traumatic Subcutaneous Emphysema The infiltration of air into the skin tissue secondary to traumatic tissue disruption. The infiltration of air into the skin tissue secondary to traumatic tissue disruption. C3671 Injury C90259 NICHD Terminology C35089 Typhoid Fever Typhoid Fever A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics. A systemic febrile illness that is caused by infection with Salmonella Typhi or Salmonella Paratyphi. C2890 Bacterial Infection C90259 NICHD Terminology C35095 Perinatal Disorder Perinatal Disorder A non-neoplastic or neoplastic disorder occurring during the period from about five months before birth to one month after birth. C89328 Pediatric Disorder C90259 NICHD Terminology C35107 Congenital Genitourinary Abnormality Congenital Genitourinary Abnormality Congenital Abnormality of the Genitourinary System An abnormality of the genitourinary system that is present at birth or detected in the neonatal period. C2849 Congenital Malformation C90259 NICHD Terminology C35109 Anterior Uveitis Anterior Uveitis Inflammation of the iris and anterior chamber of the eye. Inflammation of the anterior uveal tract. C26909 Uveitis C90259 NICHD Terminology C35110 Intermediate Uveitis Intermediate Uveitis Pars Planitis Inflammation of the pars plana. Inflammation of the pars plana. C26909 Uveitis C90259 NICHD Terminology C35111 Posterior Uveitis Posterior Uveitis An inflammatory process that affects the choroid. Inflammation of the posterior uveal tract. C26909 Uveitis C90259 NICHD Terminology C35117 Vascular Disorder Vascular Disorder A non-neoplastic or neoplastic disorder affecting the arteries, veins, or lymphatic vessels. Examples include vasculitis, thrombophlebitis, arteriosclerosis, lymphedema, hemangioma, and angiosarcoma. C2931 Cardiovascular Disorder C90259 NICHD Terminology C35124 Viral Hepatitis Viral Hepatitis An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis. Hepatitis that is caused by a viral infection. C3095 Hepatitis C3439 Viral Infection C90259 NICHD Terminology C35126 Vision Disorder Vision Disorder Disorder of Visual System || Visual System Disorder Any impairment to the vision. C63711 Sensory Disorder C90259 NICHD Terminology C35131 Vulvovaginitis Vulvovaginitis An inflammatory pathologic process that affects the vulva and the vagina. Inflammation of the vulva and vagina. C27020 Female Reproductive System Disorder C90259 NICHD Terminology C35132 Wolff-Parkinson-White Syndrome Wolff-Parkinson-White Syndrome A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes. C78245 Cardiac Conduction Disorder C90259 NICHD Terminology C35133 Wolfram Syndrome Wolfram Syndrome DIDMOAD || Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness Syndrome A rare inherited syndrome caused by mutations in the WFS1 and CISD2 genes. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. A neurodegenerative condition due to recessive mutation(s) in the WFS1 gene, encoding the membrane glycoprotein wolframin, and the CISD2 gene, encoding CDGSH iron sulfur domain protein 2 (or endoplasmic reticulum intermembrane small protein). This condition is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Additional clinical features may include renal anomalies, ataxia, intellectual impairment, and psychiatric illnesses. A similar condition may be caused by mutations in mitochondrial DNA. C28193 Syndrome C90259 NICHD Terminology C35139 Alagille Syndrome Alagille Syndrome Arteriohepatic Dysplasia An autosomal dominant genetic syndrome caused by mutations in the JAG1 gene. It is characterized by cholestatic jaundice in infancy, hepatosplenomegaly, distinctive facial features (prominent forehead, elongated nose, and pointed chin), cardiac murmurs, bone malformations, and sometimes mild mental retardation. C3101 Genetic Disorder C90259 NICHD Terminology C35141 Microcytic Anemia Microcytic Anemia Anemia in which the red blood cell volume is decreased. A form of anemia in which the erythrocytes are smaller than normal, and are usually hypochromic. Iron deficiency is one of the most common causes. C2869 Anemia C90259 NICHD Terminology C35142 Normocytic Anemia Normocytic Anemia Anemia in which the red blood cell volume is normal. A form of anemia in which the erythrocytes are of normal size, but with a decrease in hemoglobin. C2869 Anemia C90259 NICHD Terminology C35143 Chills Chills Shivering or moderate tremors of the body often accompanied by a cold sensation. Shivering or moderate tremors of the body, this is often accompanied by a cold sensation. C100104 Sign or Symptom C90259 NICHD Terminology C35145 Appendicitis Appendicitis Acute inflammation of the vermiform appendix. Inflammation of the vermiform appendix. C26726 Infectious Disorder C2990 Gastrointestinal Disorder C90259 NICHD Terminology C35147 Monocytosis Monocytosis Abnormally high level of monocytes in the blood. Abnormally high level of monocytes in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C35151 Chronic Sinusitis Chronic Sinusitis Inflammation of the paranasal sinuses that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. Sinusitis that lasts more than thirty days without improvement. C35024 Sinusitis C90259 NICHD Terminology C35163 Skin Atrophy Skin Atrophy Atrophic Skin The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging. Thin, mechanically weak skin. C36281 Integumentary System Finding C90259 NICHD Terminology C35164 Neutrophilia Neutrophilia Granulocytosis Abnormally high level of neutrophils in the blood. Abnormally high level of neutrophils in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C35169 Pregnancy Disorder Pregnancy Disorder Disorder of Pregnancy A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor. C27020 Female Reproductive System Disorder C90259 NICHD Terminology C35171 Toxic Nodular Goiter Toxic Goiter Nodular enlargement of the thyroid gland associated with hyperthyroidism. Goiter associated with excessive thyroid hormone secretion. C26785 Goiter C90259 NICHD Terminology C35199 Otorrhea Otorrhea Ear Drainage Discharge or drainage of fluid from the ear. Discharge or drainage of fluid from the ear. C100104 Sign or Symptom C90259 NICHD Terminology C3520 Myeloid Sarcoma Myeloid Sarcoma A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001) A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001) C9118 Sarcoma C90259 NICHD Terminology C35208 Varicose Vein of Lower Extremities Varicose Vein of Lower Extremities An abnormally dilated superficial vein in the legs. An abnormally dilated superficial vein in the legs. C35117 Vascular Disorder C90259 NICHD Terminology C35213 Acute Glomerulonephritis Acute Glomerulonephritis An acute inflammation of the glomeruli, generally secondary to infection or injury. A condition characterized by the sudden onset of hematuria, proteinuria, and red blood cell casts, and may be accompanied by a reduction in the glomerular filtration rate. C26784 Glomerulonephritis C90259 NICHD Terminology C35221 Abortion Finding Abortion The unintentional or intentional loss of a pregnancy before 22 weeks gestation. C90491 Pregnancy Outcome C90259 NICHD Terminology C35228 Congenital Anemia Congenital Anemia Anemia, the cause of which is present at birth. Any form of anemia for which the cause is present from birth. C104003 Congenital Hematological Disorder C90259 NICHD Terminology C35257 Alper Syndrome Alpers Disease Alpers Huttenlocher Disease || Alpers Huttenlocher Syndrome || Alpers Syndrome A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the gene for the mitochondrial DNA polymerase POLG. Clinical signs are usually not present at birth but develop within the first two years of life and include hypoglycemia from underlying liver dysfunction, failure to thrive, spasticity, myoclonus and seizures. The clinical course follows a progression of neurologic disability and hepatic failure. The prognosis is poor with survival outside the first decade unlikely. A neurodegenerative disorder with autosomal recessive inheritance that presents in childhood and is characterized by spasticity, seizures, dementia, and liver disease. C3101 Genetic Disorder C90259 NICHD Terminology C35261 Congenital Adrenal Gland Hypoplasia Adrenal Hypoplasia Congenita AHC || Congenital Adrenal Hypoplasia A rare genetic disorder that affects the adrenal gland. It usually presents in infancy with signs and symptoms of adrenal insufficiency. If it is not recognized and treated promptly, it may be lethal. A condition present at birth characterized by underdevelopment of the adrenal gland and adrenal insufficiency. C3009 Endocrine System Disorder C90259 NICHD Terminology C35262 Hereditary Sideroblastic Anemia Hereditary Sideroblastic Anemia An inherited form of sideroblastic anemia. A form of anemia in which the bone marrow produces ringed sideroblasts (erythrocytes in which the iron granules are arranged in ring form within the mitochondria inside the nucleus) in place of mature erythrocytes, the cause if which is present from the time of birth. C36078 Sideroblastic Anemia C35228 Congenital Anemia C90259 NICHD Terminology C35264 Rapidly Progressive Glomerulonephritis Rapidly Progressive Glomerulonephritis RPGN Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus. Glomerulonephritis characterized by a rapid decrease in the glomerular filtration rate, typically a 50% reduction occurring over days to weeks. C26784 Glomerulonephritis C90259 NICHD Terminology C35268 Macrocephaly Macrocephaly An abnormal increase in head circumference, which can have a variety of causes, including hydrocephalus, enlarged brain, and cranial hyperostosis. An abnormal increase in head circumference, which can have a variety of causes, including hydrocephalus, enlarged brain, and cranial hyperostosis. C2934 Central Nervous System Disorder C90259 NICHD Terminology C35271 Nontoxic Goiter Euthyroid Goiter Non-toxic Goiter Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy. Goiter in which the concentrations of thyroid hormones are normal. C26785 Goiter C90259 NICHD Terminology C35275 Visual Cortex Disorder Visual Cortex Disorder Cortical Visual Impairment A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information. C35126 Vision Disorder C90259 NICHD Terminology C35282 Alpha Fetoprotein Increased Alpha Fetoprotein Increased A laboratory test result indicating an increase in the concentration of alpha fetoproteins in the blood. A rise in the amount of alpha fetoprotein detected in the blood as compared to normal for age group and gestational age. In some instances this can be indicative of a tumor. C36292 Laboratory Test Result C90259 NICHD Terminology C35284 Specific Phobia Specific Phobia An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable. C2878 Anxiety Disorder C90259 NICHD Terminology C35286 Clostridium Difficile Colitis Clostridium difficile Infection C. diff Colitis || C. diff Infection || Clostridium difficile Colitis || Clostridium difficile Infection A bacterial infection of the colon secondary to infection with Clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated. An infection of the large intestine by the bacterium Clostridium difficile. C26723 Colitis C90259 NICHD Terminology C35287 Hemoglobin E Disease Hemoglobin E Disease A condition characterized by the presence of a variant of normal hemoglobin (hemoglobin E), which is caused by mutation(s) in the gene encoding the beta subunit of the hemoglobin molecule. An autosomal recessive disorder resulting from the production of hemoglobin E, secondary to an amino acid substitution of lysine for glutamic acid in the twenty-sixth position of the beta chain (E26K), and characterized by mild hemolytic anemia and possible splenomegaly. C3092 Hemoglobinopathy C90259 NICHD Terminology C35294 Hepatic Mass Hepatic Mass A space-occupying pathologic process that affects the liver parenchyma. A space-occupying pathologic process that affects the liver parenchyma. C3262 Neoplasm C90259 NICHD Terminology C35295 Mediastinal Mass Mediastinal Mass A mass present in the mediastinal space. A mass present in the mediastinal space. C3262 Neoplasm C90259 NICHD Terminology C35298 Inferior Vena Cava Occlusion Inferior Vena Cava Occlusion Blockage of the lumen of the inferior vena cava. Blockage of the lumen of the inferior vena cava. C99137 Great Vessels Abnormality C90259 NICHD Terminology C35337 Congenital Nephrotic Syndrome Congenital Nephrotic Syndrome A rare autosomal recessive inherited nephrotic syndrome that is present in the first week of life. It manifests with edema and proteinuria and usually has a poor prognosis. Nephrotic syndrome occurring within the first three months of life. C34845 Nephrotic Syndrome C98885 Congenital Urinary System Abnormality C90259 NICHD Terminology C35343 Drug-Induced Aplastic Anemia Drug-Induced Aplastic Anemia A state of bone marrow suppression and failure that is caused by a cytotoxic or adverse immunologic response to a drug treatment, leading to a failure of production of red blood cells, white cells and platelets. Aplastic anemia caused by a drug treatment or exposure. C2870 Aplastic Anemia C90259 NICHD Terminology C35344 Hemoglobin D Disease Hemoglobin D Disease A condition characterized by the presence of a variant of normal hemoglobin (hemoglobin D), which is caused by mutation(s) in the gene encoding the beta subunit of the hemoglobin molecule. An autosomal recessive disorder resulting from the production of hemoglobin D, secondary to various substitution mutations in the beta chain, and characterized by mild hemolytic anemia and possible splenomegaly. Multiple subtypes of hemoglobin D have been identified. C3092 Hemoglobinopathy C90259 NICHD Terminology C35345 Acquired Factor VIII Deficiency Acquired Factor VIII Deficiency An acquired coagulation disorder characterized by the partial or complete absence of factor VIII activity in the blood. An acquired coagulation disorder characterized by the partial or complete absence of factor VIII activity in the blood. C3093 Hemophilia C34347 Acquired Coagulation Factor Deficiency C90259 NICHD Terminology C35370 Bone Marrow Neoplasm Bone Marrow Neoplasm Neoplasm of Bone Marrow Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow). C3262 Neoplasm C90259 NICHD Terminology C35374 Viral Gastroenteritis Viral Gastroenteritis Gastroenteritis resulting from a viral infection. Gastroenteritis that is caused by an infection with a viral agent. C34632 Gastroenteritis C3439 Viral Infection C90259 NICHD Terminology C35376 Tracheal Agenesis Tracheal Agenesis Congenital Absence of Trachea Congenital absence of the trachea. C97173 Congenital Respiratory System Disorder C90259 NICHD Terminology C35435 Enlarging Abdomen Enlarged Abdomen Increasing girth of the mid section of an individual. C92720 Pregnancy Finding C90259 NICHD Terminology C35440 Acquired Factor IX Deficiency Acquired Factor IX Deficiency An acquired coagulation disorder characterized by the partial or complete absence of factor IX activity in the blood. An acquired coagulation disorder characterized by the partial or complete absence of factor IX activity in the blood. C3093 Hemophilia C34347 Acquired Coagulation Factor Deficiency C90259 NICHD Terminology C35444 Crescentic Glomerulonephritis Crescentic Glomerulonephritis A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months. A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months. C26784 Glomerulonephritis C90259 NICHD Terminology C35445 Mesangial Proliferative Glomerulonephritis Mesangial Proliferative Glomerulonephritis A focal inflammation of glomeruli secondary to mesangial cell proliferation and matrix deposition within the mesangium. Glomerulonephritis characterized by at least three mesangial cells per mesangial region in a 3 micron tissue section. C26784 Glomerulonephritis C90259 NICHD Terminology C35448 Eye Discharge Eye Discharge Liquid exudate from the eye. Liquid exudate from the eye. C100104 Sign or Symptom C90259 NICHD Terminology C35452 Urethral Meatus Stenosis Meatal Stenosis A narrowing of the opening of the urethra at the external meatus. A pathologic narrowing of the urethra at the orifice. C79805 Urinary Tract Obstruction C90259 NICHD Terminology C35465 Aplastic Anemia due to Radiation Aplastic Anemia due to Radiation Aplastic anemia caused by excessive absorption of radiation by the bone marrow. Aplastic anemia caused by excessive absorption of radiation by the bone marrow. C2870 Aplastic Anemia C90259 NICHD Terminology C35466 Aplastic Anemia due to Infection Aplastic Anemia due to Infection Aplastic anemia caused by an infection. Aplastic anemia caused by an infection. C2870 Aplastic Anemia C90259 NICHD Terminology C35468 Macular Edema Macular Edema Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision. Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision. C99208 Eye Finding C90259 NICHD Terminology C35469 Anemia due to Disorder of Nucleotide Metabolism Anemia due to Disorder of Nucleotide Metabolism A group of hemolytic anemias that result from either the deficiency or overproduction of several enzymes involved in metabolizing nucleotides. A group of hemolytic anemias that result from either the deficiency or overproduction of several enzymes involved in metabolizing nucleotides. C2869 Anemia C90259 NICHD Terminology C35470 Behavioral Disorder Behavioral Disorder A specific behavioral problem that occurs in persistent patterns and characteristic clusters and that causes clinically significant impairment. C2991 Disease or Disorder C90259 NICHD Terminology C35472 Anemia due to Enzyme Disorder Anemia due to Enzyme Disorder Any form of anemia that results from the absence of, or the defective action of, any enzyme. Any form of anemia that results from the absence of, or the defective action of, any enzyme. C2869 Anemia C90259 NICHD Terminology C35483 Bacterial Gastroenteritis Bacterial Gastroenteritis Gastroenteritis resulting from a bacterial infection. Gastroenteritis that is caused by an infection with a bacterial agent. C2890 Bacterial Infection C90259 NICHD Terminology C35498 Toxic Shock Syndrome Toxic Shock Syndrome TSS A rare acute life-threatening systemic bacterial noncontagious illness caused by any of several related staphylococcal exotoxins. It is characterized by high fever, hypotension, rash, multi-organ dysfunction, and cutaneous desquamation during the early convalescent period. The toxins affect the host immune system, causing an exuberant and pathological host inflammatory response. Laboratory findings include leukocytosis, elevated prothrombin time, hypoalbuminemia, hypocalcemia, and pyuria. Profoundly reduced blood flow that results in impaired tissue perfusion and possible end organ damage resulting from an exotoxin released from certain bacteria, most often Staphylococcus aureus, or Streptococcus pyogenes. C9229 Systemic Disorder C90259 NICHD Terminology C35499 Vascular Purpura Palpable Purpura Vascular Purpura A raised vasculitic hemorrhage into the skin and/or mucous membranes. A raised vasculitic hemorrhage into the skin and/or mucous membranes. C36281 Integumentary System Finding C90259 NICHD Terminology C35524 Leukocytosis Leukocytosis A laboratory test result indicating an increased number of white blood cells in the peripheral blood. Abnormally high level of white blood cells in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C35530 Thrombocytosis Thrombocytosis A hematology test result that indicates the presence of higher than normal platelet counts in the peripheral blood. Abnormally high level of platelets in the blood. C26323 Hematologic Disorder C36292 Laboratory Test Result C90259 NICHD Terminology C35546 Dysphasia Dysphasia Impairment of verbal communication skills, often resulting from brain damage. Impairment of verbal communication skills. C87124 Central Nervous System Signs and Symptoms C90259 NICHD Terminology C35547 Yellow Fever Virus Infection Yellow Fever Yellow Fever Virus Infection A viral infection caused by a flavivirus called yellow fever virus. It is transmitted to humans from infected mosquitoes. The signs and symptoms range from a mild febrile illness to liver damage with jaundice and hemorrhages. An infection that is caused by the yellow fever virus, which is transmitted to humans by mosquitoes; the signs and symptoms range from a mild febrile illness to liver damage with jaundice and bleeding. C3439 Viral Infection C90259 NICHD Terminology C35549 Hypoxic Ischemic Encephalopathy Hypoxic Ischemic Encephalopathy HIE Ischemic brain damage in which the entire brain is deprived of oxygen. It may be fatal or lead to long term disabilities including developmental delays, intellectual disability, and seizures. Injury to the central nervous system that occurs when there is insufficient delivery of oxygen to all or part of the brain. C26920 Encephalopathy C90259 NICHD Terminology C35550 Acute Poliomyelitis Acute Poliomyelitis Polio || Poliomyelitis An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine. Inflammation of the spinal cord that is caused by the poliovirus, and that often results in flaccid paralysis. C96411 Pediatric Viral Infection C90259 NICHD Terminology C35552 Cardiovascular System Finding Cardiovascular System Finding Cardiovascular Finding Symptoms, physical examination results, and/or laboratory test results related to the cardiovascular system. C3367 Finding C90259 NICHD Terminology C35574 Childhood Botryoid-Type Embryonal Rhabdomyosarcoma Childhood Botryoid-Type Embryonal Rhabdomyosarcoma Childhood Sarcoma Botryoides A morphologic variant of embryonal rhabdomyosarcoma occurring in children. The tumor arises from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma. A histologic subtype of embryonal rhabdomyosarcoma that arises under the morphologic surface of body orifices such as the vagina, bladder, nasopharynx, and biliary tract. C7957 Childhood Embryonal Rhabdomyosarcoma C90259 NICHD Terminology C35576 Mucocutaneous Candidiasis Mucocutaneous Candidiasis A fungal infection of the skin, nails, oral and vaginal mucosal sites caused by species of the genus Candida. It manifests with white discoloration of the tongue and swelling, redness, and tenderness of the nails. C3371 Skin Disorder C26726 Infectious Disorder C90259 NICHD Terminology C35596 Dental Developmental Disorder Tooth Development Disorder A disorder of the teeth arising during odontogenesis. A disorder of the teeth arising during odontogenesis. C89330 Developmental Disorder C90259 NICHD Terminology C35607 Blood Alkaline Phosphatase Increased Elevated Serum Alkaline Phosphatase A laboratory test result which indicates an increased level of alkaline phosphatase in a biological specimen. An elevated concentration of alkaline phosphatase in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C35611 Hepatic Arteriovenous Malformation Hepatic Arteriovenous Malformation Arteriovenous Malformation of Liver An abnormal connection between arteries and veins characterized by the absence of intervening capillaries in the liver. C35729 Congenital Cardiovascular Abnormality C90259 NICHD Terminology C35650 Upper Respiratory Tract Infection Upper Respiratory Infection Cold || URI || Upper Respiratory Tract Infection An infectious process affecting the upper respiratory tract (nose, paranasal sinuses, pharynx, larynx, or trachea). Symptoms include congestion, sneezing, coughing, fever, and sore throat. Infection of the nose, pharynx, larynx, or any combination thereof. C26871 Respiratory System Disorder C90259 NICHD Terminology C35651 Post-Procedural Pain Post-Procedural Pain Pain experienced after a medical intervention through the time expected for associated acute effects to abate. Pain experienced after a medical intervention through the time expected for associated acute effects to abate. C3303 Pain C90259 NICHD Terminology C35659 Anemia due to Chronic Disorder Anemia of Chronic Disease Anemia of Chronic Illness || Anemia of Chronic Inflammation Anemia due to a disorder that is persistent or long-standing in nature. A form of anemia, usually normocytic, resulting from chronic infection, immune activation, or neoplastic process. The mechanism is generally decreased iron availability in the circulation, but may be secondary to faulty/deficient erythropoiesis as well. C2869 Anemia C90259 NICHD Terminology C3568 Malignant Brain Neoplasm Malignant Brain Tumor A primary or metastatic malignant neoplasm affecting the brain. An abnormal solid mass arising within the brain with histologic features suggesting the potential to metastasize. C9305 Cancer C90259 NICHD Terminology C35710 Triple A Syndrome Triple A Syndrome 3A syndrome || Achalasia-Addisonianism-Alacrima Syndrome || Allgrove Syndrome || Triple-A syndrome An autosomal recessive condition caused by mutation(s) in the AAAS gene encoding the protein ALADIN, and characterized by primary adrenal insufficiency, esophageal dysmotility, and absence of tear production. An autosomal recessive condition caused by mutation(s) in the AAAS gene encoding the protein ALADIN, and characterized by primary adrenal insufficiency, esophageal dysmotility, and absence of tear production. C28193 Syndrome C90259 NICHD Terminology C35729 Congenital Cardiovascular Abnormality Congenital Cardiovascular Abnormality Congenital Abnormality of the Circulatory System || Congenital Anomaly of Cardiovascular System A heart or vascular abnormality which is inborn or present at birth. C2931 Cardiovascular Disorder C2849 Congenital Malformation C90259 NICHD Terminology C35731 Hearing Loss Hearing Loss A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central. Impaired ability to hear. C63711 Sensory Disorder C90259 NICHD Terminology C35754 Tracheal Atresia Tracheal Atresia Congenital Atresia of Trachea A rare, fatal congenital malformation in which the trachea is severely underdeveloped. C97173 Congenital Respiratory System Disorder C90259 NICHD Terminology C35760 Arthropathy Arthropathy Any disorder of the joints. A disease or disorder that affects a joint. C110937 Musculoskeletal Finding C90259 NICHD Terminology C35772 Vitamin Deficiency Disorder Vitamin Deficiency Disorder Vitamin Deficiency A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency. C26836 Nutritional Disorder C90259 NICHD Terminology C35798 Anti-Basement Membrane Glomerulonephritis Anti-Glomerular Basement Membrane Antibody Disease Anti-GBM Antibody Disease Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function. Glomerulonephritis characterized by antibodies to the glomerular basement membrane, specifically antibodies to alpha-3 subunit of Type IV collagen. C26784 Glomerulonephritis C90259 NICHD Terminology C35803 Zoonotic Infection Zoonotic Infection Infection by an etiologic agent that can be passed between animals and humans. An infectious agent of an animal that can be transmitted to, and cause disease in, humans. The transference of the infectious agent can be either direct or indirect. C26726 Infectious Disorder C90259 NICHD Terminology C35827 Riedel Fibrosing Thyroiditis Riedel Thyroiditis An inflammatory disorder of unknown etiology that affects the thyroid gland. It is characterized by extensive fibrosis of the thyroid parenchyma. The fibrosis extends beyond the thyroid gland capsule to the adjacent structures. Thyroiditis of unknown etiology, characterized by extensive fibrosis of the thyroid parenchyma. The fibrosis extends beyond the thyroid gland capsule to the adjacent structures. C26894 Thyroiditis C90259 NICHD Terminology C35828 Subacute Granulomatous Thyroiditis Subacute Granulomatous Thyroiditis DeQuervain Thyroiditis Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function. Subacute thyroiditis characterized clinically by pain and tenderness of the thyroid gland and histologically by multinucleated giant-cell granulomas. C26894 Thyroiditis C90259 NICHD Terminology C35876 Childhood Intracranial Neoplasm Childhood Intracranial Neoplasm A neoplasm that arises within the skull and occurs during childhood. A primary neoplasm that arises within the skull, and which occurs during childhood. C5132 Childhood Central Nervous System Neoplasm C90259 NICHD Terminology C35880 Blast Cells Present Blast Cells Present Circulating Blasts A laboratory test result indicating the presence of blast cells in a blood sample. The presence of immature blood cells in the circulation. C36292 Laboratory Test Result C90259 NICHD Terminology C35882 Hereditary Elliptocytosis Hereditary Elliptocytosis Hereditary Ovalocytosis An inherited blood disorder in which a large number of red blood cells have an elliptical morphology. An autosomal dominant inherited hemolytic anemia that is characterized by the presence of elongated erythrocytes. It is most commonly associated with mutations in the SPTA1 and SPTB genes, which encode alpha- and beta-spectrin respectively. C101218 Hemolytic Anemia due to Erythrocyte Membrane Defect C90259 NICHD Terminology C36055 Acute Myeloid Leukemia with a Variant RARA Translocation Acute Myeloid Leukemia with a Variant RARA Translocation AML with a Variant RARA Translocation A term referring to acute myeloid leukemias which show variant translocations involving the RARA gene. The variant fusion partners include NUMA1, ZBTB16, STAT5B, and NPM1. These leukemias often have the morphologic features of acute promyelocytic leukemia. A term referring to acute myeloid leukemias which show variant translocations involving the RARA gene. The variant fusion partners include NUMA1, ZBTB16 (PLZF), STAT5B, and NPM1. These leukemias often have the morphologic features of acute promyelocytic leukemia. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C90259 NICHD Terminology C36056 Acute Myeloid Leukemia with t(11;17)(q23;q21) Acute Myeloid Leukemia with t(11;17)(q23;q21) APL with t(11;17)(q23;q21); PLZF-RARA || APL with t(11;17)(q23;q21); ZBTB16-RARA || Acute Promyelocytic Leukemia with t(11;17)(q23;q21); PLZF-RARA || Acute Promyelocytic Leukemia with t(11;17)(q23;q21); ZBTB16-RARA Acute myeloid leukemia with the variant RARA t(11;17)(q23;q21) and the expression of PLZF-RARA fusion protein. It lacks differentiation response to retinoids treatment. Acute myeloid leukemia with the variant RARA t(11;17)(q23;q21) and the expression of PLZF-RARA fusion protein. It does not respond to retinoid treatment. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C90259 NICHD Terminology C36057 Acute Myeloid Leukemia with t(5;17)(q35;q21) Acute Myeloid Leukemia with t(5;17)(q35;q21) AML with t(5;17)(q35;q21) || AML with t(5;17)(q35;q21);NPM1-RARA || Acute Myeloid Leukemia with t(5;17)(q35;q21);NPM1-RARA Acute myeloid leukemia with the variant RARA t(5;17)(q35;q21) and the expression of NPM1-RARA fusion protein. An acute myeloid leukemia associated with t(5;17)(q35;q21) and NPM1-RARA fusion protein expression. This type of leukemia often has the morphologic features of acute promyelocytic leukemia. There have been rare cases in children reported in the literature. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C90259 NICHD Terminology C36058 Acute Myeloid Leukemia with t(11;17)(q13;q21) Acute Myeloid Leukemia with t(11;17)(q13;q21) APL with t(11;17)(q13;q21); NUMA1-RARA || Acute Promyelocytic Leukemia with t(11;17)(q13;q21); NUMA1-RARA Acute myeloid leukemia with the variant RARA t(11;17)(q13;q21) and the expression of NUMA1-RARA fusion protein. Acute myeloid leukemia with the variant RARA t(11;17)(q13;q21) and the expression of NUMA1-RARA fusion protein. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C90259 NICHD Terminology C36065 Superior Vena Cava Occlusion Superior Vena Cava Occlusion Blockage of the lumen of the superior vena cava. Blockage of the lumen of the superior vena cava. C99137 Great Vessels Abnormality C90259 NICHD Terminology C36078 Sideroblastic Anemia Sideroblastic Anemia Anemia characterized by the production of ringed sideroblasts instead of healthy red blood cells. A form of anemia in which the bone marrow produces ringed sideroblasts (erythrocytes in which the iron granules are arranged in ring form within the mitochondria inside the nucleus) in place of mature erythrocytes. C2869 Anemia C90259 NICHD Terminology C36170 Viral Hemorrhagic Fever Viral Hemorrhagic Fever A group of viral illnesses that are characterized by increased susceptibility to bleeding diatheses. A disease of viral etiology that is characterized by fever and bleeding, which can progress to high fever, shock and death. C3439 Viral Infection C90259 NICHD Terminology C36171 Ebola Hemorrhagic Fever Ebola Ebola Hemorrhagic Fever A viral hemorrhagic fever that is caused by the Ebola virus, which is transmitted by contact with infected animals or humans; it is characterized by high fever, unexplained bleeding, and a high mortality rate. A viral hemorrhagic fever that is caused by the Ebola virus, which is transmitted by contact with infected animals or humans; it is characterized by high fever, unexplained bleeding, and a high mortality rate. C36170 Viral Hemorrhagic Fever C35803 Zoonotic Infection C90259 NICHD Terminology C36172 Sweating Sweating A watery secretion by the sweat glands that is primarily composed of salt, urea and minerals. C100104 Sign or Symptom C90259 NICHD Terminology C36173 Prolapse Prolapse A condition in which an organ or body tissue drops or bulges out of place. Protrusion of an organ or body tissue out of it's normal anatomical position. C36287 Congenital or Acquired Anatomic Abnormality C90259 NICHD Terminology C36192 Arteriovenous Fistula Pathologic AV Fistula Pathologic Arteriovenous Fistula An unintended connection between an artery and vein. An unintended connection between an artery and vein. C3045 Fistula C35117 Vascular Disorder C90259 NICHD Terminology C36215 Immature Granulocytes in Peripheral Blood Increased Immature Granulocytes in Peripheral Blood Increased The presence of an increased number of granulocytic leukocytes, indicating an early-stage response to infection, inflammation, or neoplastic process. The presence of an increased number of granulocytic leukocytes, indicating an early-stage response to infection, inflammation, or neoplastic process. C36292 Laboratory Test Result C90259 NICHD Terminology C36252 Ineffective Hematopoiesis Ineffective Hematopoiesis A dysfunction in the production of blood cells, resulting in decreased numbers of mature, functioning blood cells of all lines in circulation. A dysfunction in the production of blood cells, resulting in decreased numbers of mature, functioning blood cells of all lines in circulation. C36289 Hematopoietic System Finding C90259 NICHD Terminology C36280 Nervous System Finding Nervous System Finding Symptoms, physical examination results, and/or laboratory test results related to the nervous system. C3367 Finding C90259 NICHD Terminology C36281 Integumentary System Finding Integumentary System Finding Skin Finding Symptoms, physical examination results, and/or laboratory test results related to the integumentary system. C3367 Finding C90259 NICHD Terminology C36284 Reproductive System Finding Reproductive System Finding Symptoms, physical examination results, and/or laboratory test results related to the reproductive system. C3367 Finding C90259 NICHD Terminology C36285 Endocrine System Finding Endocrine System Finding Symptoms, physical examination results, and/or laboratory test results related to the endocrine system. C3367 Finding C90259 NICHD Terminology C36286 Urinary System Finding Urinary System Finding Symptoms, physical examination results, and/or laboratory test results related to the urinary system. C3367 Finding C90259 NICHD Terminology C36287 Congenital or Acquired Anatomic Abnormality Congenital or Acquired Anatomic Abnormality An anatomic abnormality that is either present at birth or appears later in life. C2991 Disease or Disorder C90259 NICHD Terminology C36289 Hematopoietic System Finding Hematopoietic System Finding Symptoms, physical examination results, and/or laboratory test results related to the hematopoietic system. C3367 Finding C90259 NICHD Terminology C36292 Laboratory Test Result Laboratory Test Result The outcome of a laboratory test. C3367 Finding C90259 NICHD Terminology C36293 Ovalocytosis Ovalocytosis A peripheral blood finding in which a large number of erythrocytes are shaped in a slightly oval-shaped form. C36289 Hematopoietic System Finding C90259 NICHD Terminology C3635 Intra-Abdominal Hemangioma Intra-Abdominal Hemangioma Hemangioma of Intra-Abdominal Structure A hemangioma arising from organs within the abdominal cavity. C3085 Hemangioma C90259 NICHD Terminology C3671 Injury Injury Traumatic Injury Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity. C3367 Finding C90259 NICHD Terminology C3673 Anhedonia Anhedonia An inability to experience pleasure. Reduced ability to experience pleasure. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C3675 Obstructive Uropathy Obstructive Uropathy Uropathy that is caused by an impediment to flow in the urinary tract. Uropathy that is caused by an impediment to flow in the urinary tract. C79805 Urinary Tract Obstruction C90259 NICHD Terminology C3708 Germ Cell Tumor Germ Cell Tumor A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor. A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, dysgerminoma, and germinoma. C3262 Neoplasm C90259 NICHD Terminology C3718 Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome WAGR Syndrome 11p Partial Monosomy Syndrome || Wilms Tumor, Aniridia, Genitourinary Anomalies and Developmental Delay Syndrome || Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome A very rare congenital condition involving the complex of Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation. Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation (WAGR) syndrome involves deletions of several adjacent genes in chromosome region 11p13. Two or more of the four conditions must be present for an individual to be diagnosed with WAGR Syndrome. The clinical picture varies, depending upon the combination of abnormalities. A syndrome characterized by a predisposition for Wilms tumor, aniridia, genitourinary anomalies, and developmental delay. This is a contiguous gene syndrome due to deletion in the vicinity of chromosome 11p13 in a region containing the WT1 and PAX6 genes. C2950 Chromosomal Abnormality C90259 NICHD Terminology C3724 Cystic Hygroma Cystic Hygroma Cystic Lymphangioma A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels. C3262 Neoplasm C2978 Cyst C90259 NICHD Terminology C37261 Hermansky-Pudlak Syndrome Hermansky-Pudlak Syndrome A group of autosomal recessive inherited disorders characterized by albinism, bleeding tendency, and lung disorders such as pulmonary fibrosis. A group of autosomal recessive, inherited disorders characterized by albinism, qualitative platelet defect, and lung disorders such as pulmonary fibrosis. C3101 Genetic Disorder C28193 Syndrome C90259 NICHD Terminology C3728 Hepatoblastoma Hepatoblastoma A malignant liver neoplasm that occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Grossly, hepatoblastoma is solid, well circumscribed, and more often solitary than multiple. Microscopically, most of the tumors are composed exclusively of immature hepatocytic elements. About a fourth of hepatoblastomas contain a stromal component that may be undifferentiated or develop into bone or cartilage. The treatment of choice for hepatoblastoma is surgical excision with adjuvant therapy. Liver transplantation is being increasingly used as well. A malignant liver tumor that arises from precursors of hepatocytes. It occurs almost exclusively in infants. The lungs are the most common site of metastasis. C34803 Primary Malignant Liver Neoplasm C90259 NICHD Terminology C37308 Focal Segmental Glomerulosclerosis Focal Segmental Glomerulosclerosis FSGS A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure. Segmental scarring of the glomerulus, which may result in isolated proteinuria or nephrotic syndrome, which affects only part of the glomerulus and only some of the glomeruli. C34843 Nephropathy C90259 NICHD Terminology C3753 Germinoma Germinoma A malignant germ cell tumor arising in the central nervous system. It is characterized by the presence of primitive, large malignant germ cells and lymphocytes. A germinomatous germ cell tumor arising in the central nervous system; it is histologically identical to the dysgerminoma and seminoma. C3708 Germ Cell Tumor C90259 NICHD Terminology C3754 Gonadoblastoma Gonadoblastoma A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype. A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells that resemble seminoma cells and small cells that resemble Sertoli or granulosa cells. It occurs in the testis and the ovary, and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype. C5241 Mixed Germ Cell-Sex Cord-Stromal Tumor C90259 NICHD Terminology C3782 Cervical Intraepithelial Neoplasia Cervical Intraepithelial Neoplasia Squamous or glandular intraepithelial neoplasia that affects the cervical mucosal epithelium. There is no evidence of stromal invasion. According to the degree of cellular atypia and the associated architectural changes, it is classified as low or high grade. C3262 Neoplasm C90259 NICHD Terminology C37913 Arachnoiditis Arachnoiditis Inflammation of the arachnoid membrane and adjacent subarachnoid space. Inflammation of the arachnoid membrane and adjacent subarachnoid space. C27582 Central Nervous System Infectious Disease C90259 NICHD Terminology C37920 Bradycardia Bradycardia An abnormally slow heart rate. Thresholds for different age, gender, and patient populations exist. An abnormally low heart rate for age. C2881 Arrhythmia C90259 NICHD Terminology C37921 Bruise Bruise Injury of the soft tissues or bone without breaking the skin that is characterized by blood leakage into the surrounding area. Extravasation of blood into the surrounding tissues. C3671 Injury C90259 NICHD Terminology C37928 Confusion Confusion Disorientation A mental state characterized by a lack of clear and orderly thought and behavior. Impaired orientation to person, place or time. C87124 Central Nervous System Signs and Symptoms C90259 NICHD Terminology C37930 Constipation Constipation Irregular and infrequent or difficult evacuation of the bowels. Irregular and infrequent or difficult evacuation of the bowels. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C37935 Cough Cough A sudden, often repetitive, spasmodic contraction of the thoracic cavity, resulting in violent release of air from the lungs, and usually accompanied by a distinctive sound. A sudden, often repetitive, spasmodic release of air from the lungs accompanied by a distinctive sound. C100104 Sign or Symptom C90259 NICHD Terminology C37938 Cushingoid Cushingoid A constellation of signs and symptoms caused by an excess of glucocorticoids. Classic features include moon facies, buffalo hump, obesity, striae and adiposity. A constellation of signs and symptoms caused by an excess of glucocorticoids. Classic features include moon facies, buffalo hump, obesity, striae and adiposity. C36285 Endocrine System Finding C90259 NICHD Terminology C3794 Sex Cord-Stromal Tumor Sex Cord-Stromal Tumor A neoplasm arising in the ovary or testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the neoplasm or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, 10% of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group. A tumor arising in the ovary or testis. It is composed of one or more of the following: granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts. C3262 Neoplasm C90259 NICHD Terminology C37941 Diplopia Diplopia Double Vision The condition in which a single object appears as two objects. Also called "double vision." (from medterms.com) Perception of a single object as two images. C100104 Sign or Symptom C90259 NICHD Terminology C37943 Dizziness Dizziness Lightheadedness A sensation of lightheadedness, unsteadiness, turning, spinning or rocking. A sensation of lightheadedness, unsteadiness, turning, spinning or rocking. C100104 Sign or Symptom C90259 NICHD Terminology C37954 Flatulence Flatulence A state of excessive gas in the alimentary canal. Gas passed per rectum. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C37961 Hallucination Hallucination A false sensory perception in the absence of an external stimulus, as distinct from an illusion which is a misperception of an external stimulus. Perception of an object or event without an external source or stimulus; which is perceived as real. C63711 Sensory Disorder C90259 NICHD Terminology C37964 Hematemesis Hematemesis Vomiting blood. C3442 Vomiting C90259 NICHD Terminology C37965 Hemolysis Hemolysis Disruption of the integrity of the erythrocyte membrane causing release of hemoglobin. Red blood cell rupture with resulting release of hemoglobin into the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C37966 Hiccough Hiccup Singultus An involuntary contraction of the diaphragm against closed vocal cords, producing the "hic" sound. An involuntary contraction of the diaphragm against closed vocal cords, producing the "hic" sound. C100104 Sign or Symptom C90259 NICHD Terminology C37967 Hypercholesterolemia Hypercholesterolemia A laboratory test result indicating an increased amount of cholesterol in the blood. Abnormally high level of cholesterol in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C37968 Hyperkalemia Hyperkalemia Higher than normal levels of potassium in the circulating blood; associated with kidney failure or sometimes with the use of diuretic drugs. Abnormally high level of potassium in the blood. C27120 Electrolyte Disorder C90259 NICHD Terminology C37969 Hypermagnesemia Hypermagnesemia Higher than normal levels of magnesium in the circulating blood. Abnormally high level of magnesium in the blood. C27120 Electrolyte Disorder C90259 NICHD Terminology C37970 Hypernatremia Hypernatremia Higher than normal levels of sodium in the circulating blood. Abnormally high level of sodium in the blood. C27120 Electrolyte Disorder C90259 NICHD Terminology C37971 Hypertriglyceridemia Hypertriglyceridemia A laboratory test result indicating elevated triglyceride concentration in the blood. Abnormally high level of triglycerides in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C37972 Hypoalbuminemia Hypoalbuminemia Concentration of serum albumin below normal limits for the age related normal range. Concentration of serum albumin below normal limits for the age related normal range. C36292 Laboratory Test Result C90259 NICHD Terminology C37973 Hypocalcemia Hypocalcemia Lower than normal levels of calcium in the circulating blood. Abnormally low level of calcium in the blood. C27120 Electrolyte Disorder C90259 NICHD Terminology C37974 Hypokalemia Hypokalemia Lower than normal levels of potassium in the circulating blood. Abnormally low level of potassium in the blood. C27120 Electrolyte Disorder C90259 NICHD Terminology C37975 Hypomagnesemia Hypomagnesemia Lower than normal levels of magnesium in the circulating blood. Abnormally low level of magnesium in the blood. C27120 Electrolyte Disorder C90259 NICHD Terminology C37976 Hyponatremia Hyponatremia Lower than normal levels of sodium in the circulating blood. Abnormally low level of sodium in the blood. C27120 Electrolyte Disorder C90259 NICHD Terminology C37977 Hypophosphatemia Hypophosphatemia Lower than normal levels of phosphates in the circulating blood. Abnormally low level of phosphate in the blood. C27120 Electrolyte Disorder C90259 NICHD Terminology C37979 Ileus Ileus Decrease in peristalsis in the absence of a mechanical bowel obstruction. Decrease in peristalsis in the absence of a mechanical bowel obstruction. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C37999 Palpitation Palpitation An unpleasant sensation of irregular and/or forceful beating of the heart. The sensation of an irregular and/or forceful heart beat. C100104 Sign or Symptom C90259 NICHD Terminology C38003 Phlebitis Phlebitis Inflammation of a vein. Inflammation of a vein. C35117 Vascular Disorder C90259 NICHD Terminology C38004 Skin Photosensitivity Skin Photosensitivity Increased sensitivity of the skin to light exposure. Increased skin reactivity to light exposure. C36281 Integumentary System Finding C100104 Sign or Symptom C90259 NICHD Terminology C38006 Pneumothorax Pneumothorax Abnormal presence of air in the pleural cavity. A collection of air or other gas between the visceral and parietal pleura. C26871 Respiratory System Disorder C90259 NICHD Terminology C38011 Proctitis Proctitis An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease. Inflammation of the rectum. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C38012 Proteinuria Proteinuria The presence of abnormal amounts of protein in the urine. The presence of abnormal amounts of protein in the urine. C36292 Laboratory Test Result C90259 NICHD Terminology C38013 Range Range The difference between the lowest and highest numerical values; the limits or scale of variation. C70766 Quantitative Concept C90259 NICHD Terminology C38029 Tachycardia Tachycardia An abnormally rapid heart rate. Thresholds for different age, gender, and patient populations exist. An abnormally high heart rate for age. C35552 Cardiovascular System Finding C90259 NICHD Terminology C38036 Audiometric Test Audiometric Test Testing conducted utilizing a manual or microprocessor audiometer to test for hearing loss. C84749 Newborn Examination C90259 NICHD Terminology C38038 Tremor Tremor The shaking movement of the whole body or just a certain part of it, often caused by problems of the neurons responsible for muscle action. Unintentional trembling or shaking of one or more body parts. C100104 Sign or Symptom C90259 NICHD Terminology C38043 Typhlitis Typhlitis Neutropenic Colitis Inflammation of the cecum, usually accompanied by neutropenia. Inflammation of the cecum, usually in the presence of neutropenia. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C38057 Vertigo Vertigo A feeling of movement, a sensation as if the external world were revolving around the patient (objective vertigo) or as if he himself were revolving in space (subjective vertigo). Vertigo is medically distinct from dizziness, lightheadedness, and unsteadiness. A type of dizziness with a sensation of spinning. C87124 Central Nervous System Signs and Symptoms C90259 NICHD Terminology C3808 Rhabdoid Tumor Rhabdoid Tumor An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor. Extremely aggressive malignancies that generally occur in infants and young children. The most common locations are the kidney and central nervous system (CNS), although they can also arise in most soft tissue sites. Approximately two-thirds of patients will present with advanced-stage disease. Rhabdoid tumors of the kidney tend to metastasize to the CNS and lungs. Rhabdoid tumors are associated with mutations of SMARCB1 (INI-1), a tumor suppressor gene. C9305 Cancer C90259 NICHD Terminology C38085 Pulse Oximetry Pulse Oximetry A non-invasive method that provides estimates of arterial oxyhemoglobin saturation by utilizing selected wavelengths of light to determine the saturation of oxyhemoglobin. C60832 Oxygen Saturation Measurement C90259 NICHD Terminology C3809 Neuroendocrine Neoplasm Neuroendocrine Tumor A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma. C3262 Neoplasm C90259 NICHD Terminology C38095 Urine Casts Urinary Casts Urine Casts Tubules in the kidneys secrete proteins. Under some circumstances, these proteins precipitate out to form little cylindrical impressions of the tubules called casts. If anything is present in the tubules at the time, it gets trapped in the protein casts. This offers a "snap shot" of the tubular lumen at the time of cast formation. (from Medline Plus) Cylindrical impressions of kidney tubules and collecting ducts that comprise primarily of mucoprotein precipitates that can be overlaid with acellular (hyaline, granular, waxy, pigment, fat, crystals) or cellular (red blood cells, white blood cells, bacteria, or epithelial cells) components. C36286 Urinary System Finding C90259 NICHD Terminology C38114 Route of Administration Route of Administration Designation of the part of the body through which or into which, or the way in which, the medicinal product is intended to be introduced. In some cases a medicinal product can be intended for more than one route and/or method of administration. C25218 Intervention or Procedure C90259 NICHD Terminology C38141 Pneumococcal 7-Valent Conjugate Vaccine Pneumococcal 7-Valent Conjugate Vaccine PCV 7 An active immunizing agent used to prevent infection by the bacterium Streptococcus pneumoniae. Pneumococcal 7-valent conjugate vaccine consists of a solution of saccharides of the capsular antigens of Streptococcus serotypes 4, 6B, 9V, 14, 18C, 19F, and 23F individually conjugated to diphtheria CRM 197 protein. C97123 Pneumococcal Conjugate Vaccine C90259 NICHD Terminology C38145 Chronic Allograft Nephropathy Chronic Kidney Allograft Nephropathy Gradual loss of donor kidney function occurring months to years after transplantation. It is characterized by renal tubular atrophy, interstitial fibrosis, and arterial wall thickening. Gradual loss of donor kidney function occurring months to years after transplantation. It is characterized by renal tubular atrophy, interstitial fibrosis, and arterial wall thickening. C3149 Kidney Disease C90259 NICHD Terminology C38155 Recurrent Disease Recurrent Disease Relapsed Disease The return of a disease after a period of remission. The return of a disease after a period of remission. C3367 Finding C90259 NICHD Terminology C3820 Cyclic Neutropenia Cyclic Neutropenia CH || CN || Cyclic Hematopoiesis A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever. A hematologic disorder caused by a mutation in the ELANE (ELA2) gene. Clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever. C3101 Genetic Disorder C26323 Hematologic Disorder C90259 NICHD Terminology C38276 Intravenous Route of Administration Intravenous Route of Administration Administration of a drug within or into a vein or veins. Introduction of the drug directly into venous circulation results in 100% bioavailability due to an absence of the absorption phase, provides a precise and continuous mode of drug therapy, especially for drugs with a narrow therapeutic index. C38291 Parenteral Route of Administration C90259 NICHD Terminology C38284 Nasal Route of Administration Nasal Route of Administration Administration of a drug by the way of the nose. This often results in systemic action of the agent due to absorption through the nasal mucosa. The richly supplied vascular nature of the nasal mucosa coupled with its high drug permeation makes the nasal route of administration attractive for many drugs, including proteins and peptides. C38114 Route of Administration C90259 NICHD Terminology C38288 Oral Route of Administration Oral Route of Administration The introduction of a substance to the mouth or into the gastrointestinal tract by the way of the mouth, usually for systemic action. It is the most common, convenient, and usually the safest and least expensive route of drug administration, but it uses the most complicated pathway to the tissues and bioavailability varies. The disadvantages of method are hepatic first pass metabolism and enzymatic degradation of the drug within the gastrointestinal tract. This prohibits oral administration of certain classes of drugs especially peptides and proteins. C38114 Route of Administration C90259 NICHD Terminology C38291 Parenteral Route of Administration Parenteral Route of Administration Administration of a substance by some means other than through the gastrointestinal tract: usually through injection, infusion, or implantation. Predominantly, the drug action is systemic, but in some cases, it is confined to local area. C38114 Route of Administration C90259 NICHD Terminology C38299 Subcutaneous Route of Administration Subcutaneous Route of Administration Drug administration beneath the skin. It provides for relatively slow, sustained release of the drug. The rate of absorption into the blood is perfusion-limited, proportional to the amount of drug at the site and can be enhanced by chemical or physical stimulation of blood flow. Subcutaneous administration minimizes the risks associated with intravascular injection: for subcutaneous infusions, external and implantable pumps are used. C38291 Parenteral Route of Administration C90259 NICHD Terminology C3832 Malaise Malaise A feeling of general discomfort or uneasiness, an out-of-sorts feeling. A nonspecific feeling of bodily discomfort, fatigue and/or unease. C100104 Sign or Symptom C90259 NICHD Terminology C38377 Acute Myeloid Leukemia with t(17;17)(q21;q21) Acute Myeloid Leukemia with t(17;17)(q21;q21) APL with t(17;17)(q21;q21); STAT5B-RARA || Acute Promyelocytic Leukemia with t(17;17)(q21;q21); STAT5B-RARA Acute myeloid leukemia with the variant RARA t(17;17)(q21;q21) and the expression of STAT5B-RARA fusion protein. Acute myeloid leukemia with the variant RARA t(17;17)(q21;q21) and the expression of STAT5B-RARA fusion protein. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C90259 NICHD Terminology C3840 Port Wine Stain Port Wine Stain Port-Wine Stain of Skin A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color. C35729 Congenital Cardiovascular Abnormality C90259 NICHD Terminology C3847 Renal Cell Dysplasia Renal Cell Dysplasia Renal Dysplasia A finding of congenital malformations in the kidney characterized by the presence of cysts of various sizes, primitive ducts, islands of metaplastic cartilage and undifferentiated mesenchyme, and the absence of cortico-medullary demarcation. Abnormal development of the kidney with heterologous elements that is present at birth. C3149 Kidney Disease C90259 NICHD Terminology C3858 Mental and Behavioral Signs and Symptoms Mental and Behavioral Signs and Symptoms Clinical evidence of disease resulting from mental and/or behavioral dysfunction. C100104 Sign or Symptom C90259 NICHD Terminology C38665 Chest Pain Chest Pain Pain in the chest. Pain in the chest, not otherwise specified. C100104 Sign or Symptom C90259 NICHD Terminology C3873 Ovarian Germ Cell Tumor Ovarian Germ Cell Tumor A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma. A neoplasm arising from gonadal tissue within the ovary. C114801 Childhood Gonadal Germ Cell Tumor C90259 NICHD Terminology C3878 Thyroid Gland Anaplastic Carcinoma Anaplastic Thyroid Carcinoma Undifferentiated Thyroid Tumor A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive. An aggressive carcinoma of the thyroid gland composed of undifferentiated cells. C3414 Thyroid Tumor C90259 NICHD Terminology C3879 Thyroid Gland Medullary Carcinoma Medullary Thyroid Carcinoma C Cell Carcinoma A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy. Carcinoma arising from the C-cells of the thyroid gland. C3414 Thyroid Tumor C90259 NICHD Terminology C3889 Pelvic Inflammatory Disease Pelvic Inflammatory Disease PID Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection. A clinical syndrome that is caused by an ascending infection of the female upper genital tract, and that is most commonly caused by sexually transmitted infections. C26726 Infectious Disorder C90259 NICHD Terminology C3890 Hypoxia Hypoxia A decrease in the amount of oxygen in the body. Symptoms range from mild (impaired judgment, memory loss, impaired motor coordination) to severe (seizures and coma). A condition in which there is low oxygen in the tissues. C45233 Respiratory System Finding C90259 NICHD Terminology C3891 Color Blindness Color Blindness Color Vision Defects The absence of or defect in the perception of colors. Impaired ability to distinguish colors on the spectrum. C97109 Blindness C90259 NICHD Terminology C390 Contrast Agent Contrast Agent Substances administered during imaging procedures that allows delineation of internal structures. Contrast agents appear opaque due to the difference in absorption of X-rays or other electromagnetic waves and surrounding tissue. C1909 Pharmacologic Substance C90259 NICHD Terminology C3918 Extragonadal Germ Cell Tumor Extragonadal Germ Cell Tumor A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum). A neoplasm arising from gonadal tissue outside the ovary or testes. C3708 Germ Cell Tumor C90259 NICHD Terminology C39298 Adolescence Adolescence A human life stage that begins at twelve years of age and continues until twenty-one complete years of age, generally marked by the beginning of puberty and lasting to the beginning of adulthood. A human life stage that begins at twelve years of age and continues until twenty-one complete years of age, generally marked by the beginning of puberty and lasting to the beginning of adulthood. C89345 Childhood C90259 NICHD Terminology C3944 Congenital Melanocytic Nevus Congenital Melanocytic Nevus Congenital Melanocytic Nevi || Congenital Pigmented Melanocytic Nevus A melanocytic nevus that is present at birth. It may present as a small macular, papular, or plaque-like lesion or as a large brown to black hairy skin lesion. C3262 Neoplasm C90259 NICHD Terminology C39594 Skin Rash Skin Rash Rash || Skin Eruption Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful. An eruption in the skin which affects its appearance and/or texture. C36281 Integumentary System Finding C100104 Sign or Symptom C90259 NICHD Terminology C3961 Hyperuricemia Hyperuricemia Elevated blood concentrations of uric acid. Abnormally high level of uric acid in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C39611 Intestinal Perforation Intestinal Perforation Perforation of Intestine A rupture in the wall of the small or large intestine due to traumatic or pathologic processes. C79470 Gastrointestinal Perforation C90259 NICHD Terminology C39624 Skin Plaque Plaque A large (greater than 5-10 mm) raised skin lesion with a wide, flat surface. A large (greater than 5-10 mm) raised skin lesion with a wide, flat surface. C36281 Integumentary System Finding C90259 NICHD Terminology C39646 Erythroderma Exfoliative Dermatitis Erythroderma A generalized inflammatory cutaneous disorder characterized by erythema and desquamation. A generalized inflammatory cutaneous disorder characterized by erythema and desquamation. C3371 Skin Disorder C90259 NICHD Terminology C39658 Bronchiolitis Bronchiolitis Wheezy Bronchitis Inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath. Inflammation of the bronchioles. C3198 Lung Disorder C90259 NICHD Terminology C39690 Papular Lesion Papule A small (less than 5-10 mm) elevation of skin that is non-suppurative. A small (less than 5-10 mm), elevation of skin that is non-suppurative. C36281 Integumentary System Finding C90259 NICHD Terminology C39725 Immunodeficiency Immunodeficiency Immunodeficient A disorder in which the immune system is unable to mount an adequate immune response. A state in which the immune system is compromised or absent. May be primary (congenital) or secondary (acquired). C3507 Immune System Disorder C90259 NICHD Terminology C39752 Refractory Disease Refractory Disease A disease that resists treatment. A disease that is not responsive to treatment. C3367 Finding C90259 NICHD Terminology C39800 Sickle Cell Trait Sickle Cell Trait An individual who is heterozygous for the mutation that causes sickle cell anemia. A condition in which the individual is heterozygous for the beta globin gene, displaying one normal and one abnormal allele (hemoglobin S mutation). The individual almost never displays symptoms of sickle cell anemia, but may manifest symptoms if the body experiences significant physical stress, including severe illness or prolonged hypoxemia. The trait has been found to be protective against contracting malaria. C95534 Hemoglobin Trait C90259 NICHD Terminology C39814 Classic Congenital Mesoblastic Nephroma Classic Congenital Mesoblastic Nephroma A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation. A congenital, mesoblastic nephroma that is characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation. It is often diagnosed by prenatal ultrasound or within 3 months of birth, and closely resembles infantile fibromatosis. C6569 Congenital Mesoblastic Nephroma C90259 NICHD Terminology C39815 Cellular Congenital Mesoblastic Nephroma Cellular Congenital Mesoblastic Nephroma A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present. A congenital mesoblastic nephroma that is characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. There is a suggested linkage with infantile fibrosarcoma that is based on both containing the same t(12;15)(p13;q25) translocation, resulting in the ETV6/NTRK3 fusion. This type is associated with risk of recurrence. C6569 Congenital Mesoblastic Nephroma C90259 NICHD Terminology C3988 Syndrome of Inappropriate Antidiuretic Hormone Secretion Syndrome of Inappropriate Antidiuretic Hormone Inappropriate ADH Secretion || Inappropriate Arginine Vasopressin Secretion || SIADH || Syndrome of Inappropriate Antidiuretic Hormone Secretion || Syndrome of Inappropriate Vasopressin Secretion A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body. A syndrome characterized by elevated concentrations of antidiuretic hormone (ADH) or ADH-like peptides, in the setting of hyponatremia and hypoosmolality. Causes include surgical damage to the pituitary stalk, drugs that stimulate release of, or mimic ADH, including psychotropic drugs, ectopic production of ADH, and pulmonary disease. C3009 Endocrine System Disorder C90259 NICHD Terminology C3991 Thrombocytopenia Due to Immune Destruction Immune Thrombocytopenia Thrombocytopenia Due to Immune Destruction A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus). A general class of thrombocytopenia due to immune destruction of platelets. C131634 Platelet Abnormality C3408 Thrombocytopenia C90259 NICHD Terminology C39911 Testicular Gonadoblastoma Testicular Gonadoblastoma A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells. A gonadoblastoma that occurs in the testis. C7322 Testicular Mixed Germ Cell-Sex Cord-Stromal Tumor C3754 Gonadoblastoma C90259 NICHD Terminology C39947 Juvenile Type Testicular Granulosa Cell Tumor Juvenile Type Testicular Granulosa Cell Tumor A rare sex cord-stromal tumor that arises from the testis. It is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period. It usually presents as an asymptomatic scrotal or abdominal mass. Morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells. A rare sex cord-stromal tumor that arises from the testis. C4207 Juvenile Type Granulosa Cell Tumor C6357 Testicular Granulosa Cell Tumor C90259 NICHD Terminology C39966 Ovarian Sertoli-Stromal Cell Tumor Ovarian Sertoli-Stromal Tumor A sex cord-stromal tumor that arises from the ovary and is composed entirely of, or in various combinations of, Sertoli cells, Leydig cells, and fibroblast-like cells. A sex cord-stromal tumor, comprising in its entirety or in various combinations, Sertoli cells, Leydig cells, and fibroblast-like cells, that arises from the ovary. C4862 Ovarian Sex Cord-Stromal Tumor C90259 NICHD Terminology C3997 Childhood Medulloblastoma Childhood Medulloblastoma A medulloblastoma occurring in children. A medulloblastoma occurring in children. C3222 Medulloblastoma C114833 Childhood Central Nervous System Embryonal Neoplasm C90259 NICHD Terminology C39976 Sertoli Cell Tumor Sertoli Cell Tumor A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course. A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. C3794 Sex Cord-Stromal Tumor C90259 NICHD Terminology C39977 Ovarian Stromal-Leydig Cell Tumor Ovarian Stromal-Leydig Tumor A rare, benign and well circumscribed stromal tumor of the ovary. It is characterized by the presence of a fibrotic stroma with clusters of Leydig cells. The Leydig cells contain crystals of Reinke. Patients may present with virilization. A rare, benign, well circumscribed stromal tumor of the ovary. It is characterized by the presence of a fibrotic stroma with clusters of Leydig cells. C39966 Ovarian Sertoli-Stromal Tumor C90259 NICHD Terminology C39985 Ovarian Gonadoblastoma Ovarian Gonadoblastoma A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites. A gonadoblastoma that occurs in the ovary. C7321 Ovarian Mixed Germ Cell-Sex Cord-Stromal Tumor C3754 Gonadoblastoma C90259 NICHD Terminology C40122 Pelvic Pain Pelvic Pain Painful sensation in the pelvis. Pain in the pelvic region. C3303 Pain C90259 NICHD Terminology C4016 Malignant Bone Neoplasm Bone Cancer A primary or metastatic malignant neoplasm affecting the bone or articular cartilage. A solid malignant neoplasm that develops or arises in the bone. C9305 Cancer C90259 NICHD Terminology C40341 Hypospadias Hypospadias A congenital abnormality in which the external urethral orifice is on the underside of the penis. In a minority of cases it is associated with other genitourinary abnormalities. A congenital condition in which the urethra fails to develop properly, and the opening of the urethra is located on the ventrum of the penis, scrotum, or perineum. C98885 Congenital Urinary System Abnormality C90259 NICHD Terminology C4035 Thyroid Gland Papillary Carcinoma Papillary Thyroid Carcinoma A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance. A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance. C3414 Thyroid Tumor C90259 NICHD Terminology C40407 Kidney Wilms Tumor Nephroblastoma An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver. C3267 Wilms Tumor C90259 NICHD Terminology C40425 Congenital Hamartoma Congenital Hamartoma A hamartomatous lesion which is present at birth. A benign tumor-like nodule composed of an overgrowth of mature cells and tissues which is present at birth. C2849 Congenital Malformation C90259 NICHD Terminology C40435 Potter Syndrome Potter Syndrome Oligohydramnios Sequence || Potter's Sequence A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure. C3101 Genetic Disorder C90259 NICHD Terminology C4045 Childhood Oligodendroglioma Childhood Oligodendroglioma An oligodendroglioma that arises from the central nervous system and occurs during childhood. An oligodendroglioma that occurs during childhood. C5132 Childhood Central Nervous System Neoplasm C90259 NICHD Terminology C40460 Cafe Au Lait Spot Cafe Au Lait Spot A light brown, sharply demarcated skin patch. It is a manifestation of neurofibromatosis type 1 and McCune-Albright syndrome. C3371 Skin Disorder C90259 NICHD Terminology C4048 Childhood Pilocytic Astrocytoma Childhood Pilocytic Astrocytoma A pilocytic astrocytoma that occurs during childhood. A pilocytic astrocytoma that occurs during childhood. C124275 Childhood Astrocytoma C90259 NICHD Terminology C4076 Isosporiasis Cystoisosporiasis An intestinal infection with Isospora belli. A protozoan infection that is caused by Cystoisospora belli (formerly known as Isospora belli), which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain. C34953 Protozoal Infection C90259 NICHD Terminology Isosporiasis C4080 Perforation Perforation A hole or opening made through a membrane or other tissue or material. A hole or opening made through a membrane or other tissue. C3671 Injury C90259 NICHD Terminology C40978 Telephone Number Telephone Number A sequence of decimal digits (0-9) that is used for identifying a destination telephone line or other device in a telephone network. C90492 Personal Information C90259 NICHD Terminology C41147 Modality Modality A specific manner, characteristic, pattern of application or the employment of, any therapeutic agent or method of treatment, especially involving the physical treatment of a condition. C25447 Characteristic C90259 NICHD Terminology C41148 Placement Placement Position or arrangement, as of the teeth; the state of being placed or arranged, as the assignment of a person to a appropriate clinical study. C92722 Qualitative Concept C90259 NICHD Terminology C41236 Osteosclerosis Osteosclerosis Abnormally high bone density. An increase in bone density. C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C41830 Back Pain Back Pain Painful sensation in the back region. Pain localized to the back. C3303 Pain C90259 NICHD Terminology C4207 Juvenile Type Granulosa Cell Tumor Juvenile Type Granulosa Cell Tumor A granulosa cell tumor occurring in the ovary and testis. In females it occurs predominantly in the first three decades of life and presents unilaterally as stage I disease in the vast majority of cases. It is characterized by the presence of granulosa cells forming macrofollicular structures. The majority of cases have a good prognosis. In males it represents the most frequent congenital testicular neoplasm and the vast majority of cases occur in the perinatal period. It presents as a scrotal or abdominal mass and it more often affects the left testis. Approximately 20% of the patients have ambiguous external genitalia. It is characterized by the presence of cystic spaces lined by granulosa cells and cells resembling theca cells. Metastases have not been reported. A rare type of tumor derived from the granulosa cells in the ovary or testis. Ninety percent of girls with the tumor will have low stage disease, which is curable with surgery alone. In males, it usually presents in infancy (median age, 6 days), which is treated with surgery alone. C3070 Granulosa Cell Tumor C90259 NICHD Terminology C42080 Childhood Choroid Plexus Neoplasm Childhood Choroid Plexus Neoplasm A neoplasm that arises from the choroid plexus in the brain and occurs during childhood. A neoplasm that arises from the choroid plexus during childhood. C5132 Childhood Central Nervous System Neoplasm C90259 NICHD Terminology C4244 Infantile Fibrosarcoma Infantile Fibrosarcoma A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes. A fibrosarcoma typically congenital, and occurring most commonly within the first three months of life, sharing identical morphologic features with adult fibrosarcoma but rarely metastatic. It usually affects the superficial and deep soft tissues of the extremities. The majority of infantile fibrosarcomas carry the t(12;15)(p13;q25) translocation. C8088 Childhood Fibrosarcoma C90259 NICHD Terminology C4264 Clear Cell Sarcoma of the Kidney Clear Cell Sarcoma of the Kidney A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue. A rare primary renal tumor characterized by nests or cords of cells that are separated by regularly spaced fibrovascular septa, and which are known to metastasize to lung, bone, brain and soft tissue. It is associated with internal tandem duplications in the BCOR gene. C9306 Soft Tissue Sarcoma C90259 NICHD Terminology C42776 Immature Myeloid Cells Increased in Bone Marrow Immature Myeloid Cells Increased in Bone Marrow An increased number of myeloid precursors in the bone marrow. An increased number of myeloid precursors in the bone marrow. C36292 Laboratory Test Result C90259 NICHD Terminology C4293 Partial Hydatidiform Mole Partial Hydatidiform Mole Incomplete Hydatidiform Mole A gestational trophoblastic disorder characterized by the presence of an abnormal fetus and two populations of chorionic villi: one population which is unremarkable and a second one which shows hydropic changes. A placental disorder characterized by the presence of two populations of chorionic villi: one population which is of unremarkable development and a second one which shows hydropic changes. C3110 Hydatidiform Mole C90259 NICHD Terminology C43223 Myeloid Leukemia Associated with Down Syndrome Acute Myeloid Leukemia Occurring in Children with Down syndrome AML Occurring in Children with Down Syndrome || Acute Myeloid Leukemia with GATA1 Mutations Acute myeloid leukemia or myelodysplastic syndrome occurring in children with Down syndrome. The acute myeloid leukemia is usually an acute megakaryoblastic leukemia, and is associated with GATA1 gene mutation. Acute myeloid leukemia occurring in children with Down syndrome. During the first 3 years of life, it is usually the megakaryoblastic subtype, and is associated with GATA1 gene mutation. After age 4 this is no longer the case. C9160 Childhood Acute Myeloid Leukemia C90259 NICHD Terminology C43245 Pyramidal Tract Dysfunction Pyramidal Tract Syndrome Dysfunction of the corticospinal (pyramidal) tracts of the spinal cord. Symptoms include increased muscle tone in the lower extremities, hyperreflexia, positive Babinski, and decreased fine motor coordination. Dysfunction of the corticospinal tracts of the spinal cord. C2934 Central Nervous System Disorder C90259 NICHD Terminology C43263 Diabetes Insipidus Diabetes Insipidus A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related. A condition characterized by excretion of large amounts of dilute urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. C3009 Endocrine System Disorder C90259 NICHD Terminology C4327 Medulloepithelioma Medulloepithelioma A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting. A rare malignant embryonal neoplasm of the central nervous system, occurring in children. It is characterized by the presence of neuroepithelial cells that form papillary, trabecular, or tubular structures. C5961 Childhood Central Nervous System Primitive Neuroectodermal Tumor C90259 NICHD Terminology C43278 Macular Lesion Macule A flat lesion characterized by change in the skin color. A localized area of skin that is discolored and not elevated. C36281 Integumentary System Finding C90259 NICHD Terminology C4348 Non-Functioning Pituitary Gland Adenoma Non-Functioning Pituitary Gland Adenoma A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome. C3329 Pituitary Gland Adenoma C90259 NICHD Terminology C4351 Choroid Plexus Cyst Choroid Plexus Cyst Choroid Plexus Pseudocyst Solitary or multiple cysts within the fetal choroid plexus that frequently spontaneously resolve antenatally and do not usually have postnatal sequelae. Solitary or multiple cysts within the fetal choroid plexus that frequently spontaneously resolve antenatally and do not usually have postnatal sequelae. C4657 Central Nervous System Cyst C90259 NICHD Terminology C4371 Gestational Hypertension Gestational Hypertension Pregnancy Associated Hypertension || Pregnancy-Induced Hypertension A blood pressure elevation after 20 weeks of gestation in the absence of either proteinuria or systemic findings like thrombocytopenia, impaired liver function, progressive renal insufficiency, pulmonary edema or the new-onset of cerebral or visual disturbances. A blood pressure elevation after 20 weeks of gestation in the absence of either proteinuria or systemic findings like thrombocytopenia, impaired liver function, progressive renal insufficiency, pulmonary edema or the new-onset of cerebral or visual disturbances. C34941 Pregnancy Complication C3117 Hypertension C90259 NICHD Terminology C4375 Nesidioblastosis Nesidioblastosis A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia. C3009 Endocrine System Disorder C90259 NICHD Terminology C4376 Renal Failure Renal Failure Renal Failure Syndrome An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood. An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood. C3149 Kidney Disease C90259 NICHD Terminology C4385 Hypothalamic Hamartoma Hypothalamic Hamartoma A benign, disorganized mass of various mature cells, located heterotopically in the hypothalamus; it is often associated with endocrine and neurological conditions, such as precocious puberty and gelastic seizures. A benign, disorganized mass of various mature cells, located heterotopically in the hypothalamus; it is often associated with endocrine and neurological conditions, such as precocious puberty and gelastic seizures. C96413 Brain Disorder C90259 NICHD Terminology C4387 Ectopic ACTH Secretion Syndrome Ectopic ACTH Syndrome A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott) A condition characterized by excess corticosteroid concentration in response to adrenocorticotropic hormone (ACTH) produced outside of the pituitary gland. C28193 Syndrome C90259 NICHD Terminology C44959 Chlamydophila psittaci Infection Psittacosis A bacterial infection caused by Chlamydophila psittaci. Humans are infected by handling sick birds. The Chlamydiae cause respiratory infection manifests with fever, malaise, cough, dyspnea, sore throat, photophobia and headaches. An infection that is caused by Chlamydophila psittaci, which is transmitted by infected birds; it typically causes a febrile respiratory illness. C2890 Bacterial Infection C90259 NICHD Terminology C45161 Borrelia Burgdorferi Infection Lyme Disease Borrelia burgdorferi Infection An infectious disease caused by the spirochete Borrelia burgdorferi. Early manifestations of infection may include fever, headache, fatigue, depression, and a characteristic skin rash called erythema migrans. Left untreated, late manifestations involving the joints, heart, and nervous system can occur. An infectious disease that is caused by the spirochete Borrelia burgdorferi. C26726 Infectious Disorder C90259 NICHD Terminology C45233 Respiratory System Finding Respiratory System Finding Respiratory Finding Symptoms, physical examination results, and/or laboratory test results related to the respiratory system. C3367 Finding C90259 NICHD Terminology C45234 Wound Infection Wound Infection Infection of a break in the skin or other tissue. Infection of a break in the skin or other tissue due to injury. C128320 Infection C26726 Infectious Disorder C90259 NICHD Terminology C45306 Substance Substance Any matter of defined composition that has discrete existence, whose origin may be biological, mineral or chemical. C90259 NICHD Terminology C90259 NICHD Terminology C45327 Hydroa Vacciniforme-Like Lymphoproliferative Disorder Hydroa Vacciniforme-Like Lymphoma HV-Like Lymphoma A rare, EBV-positive cutaneous T-cell lymphoproliferative disorder, composed of CD8 positive cytotoxic T-lymphocytes. It affects children, almost exclusively in Latin America and Asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin. In contrast to hydroa vacciniforme (HV), HV-like lymphoma is not induced by sun exposure and the lesions can occur in both sun-exposed and covered body areas. It affects children, almost exclusively in Latin America and Asia. C3211 Non-Hodgkin Lymphoma C90259 NICHD Terminology C45434 Primary Focal Segmental Glomerulosclerosis Primary Focal Segmental Glomerulosclerosis Primary FSGS Focal scarring of the glomerulus, which may result in isolated proteinuria or nephrotic syndrome, which affects only part of the glomerulus and only some of the glomeruli. The condition is considered primary in cases for which no underlying cause has been identified. Focal scarring of the glomerulus, which may result in isolated proteinuria or nephrotic syndrome, which affects only part of the glomerulus and only some of the glomeruli. The condition is considered primary in cases for which no underlying cause has been identified. C37308 Focal Segmental Glomerulosclerosis C90259 NICHD Terminology C45435 Secondary Focal Segmental Glomerulosclerosis Secondary Focal Segmental Glomerulosclerosis Secondary FSGS Focal segmental glomerulosclerosis due to another medical condition. Focal segmental glomerulosclerosis due to another medical condition. C37308 Focal Segmental Glomerulosclerosis C90259 NICHD Terminology C45525 Valvular Heart Disorder Valvular Heart Disorder Disorder of Heart Valve || Heart Valve Disorder Any heart disorder characterized by a defect in valve structure or function. C3079 Heart Disorder C90259 NICHD Terminology C45626 Type I Pleuropulmonary Blastoma Type I Pleuropulmonary Blastoma A pleuropulmonary blastoma composed of malignant small cells. Sarcomatous features are absent. A pleuropulmonary blastoma comprising malignant small cells in a cystic pattern. C5669 Pleuropulmonary Blastoma C90259 NICHD Terminology C45627 Type II Pleuropulmonary Blastoma Type II Pleuropulmonary Blastoma A pleuropulmonary blastoma composed of malignant small cells and characterized by the presence of a sarcomatous component. It usually follows an aggressive clinical course. A pleuropulmonary blastoma comprising malignant small cells in a cystic and solid pattern. C5669 Pleuropulmonary Blastoma C90259 NICHD Terminology C45628 Type III Pleuropulmonary Blastoma Type III Pleuropulmonary Blastoma A pleuropulmonary blastoma characterized by a solid pattern and sarcomatous features. It usually follows an aggressive clinical course. A pleuropulmonary blastoma comprising malignant small cells in a solid pattern. C5669 Pleuropulmonary Blastoma C90259 NICHD Terminology C45915 Gonadotroph Adenoma Gonadotropin-Producing Adenoma An adenoma of the anterior lobe of the pituitary gland that produces gonadotrophic hormones (FSH and/or LH) or shows evidence towards gonadotroph differentiation. The majority of cases are hormonally non-functional. Clinical manifestations include visual disturbances, hypopituitarism, headache, and acute hemorrhagic necrosis of the pituitary gland. A non-malignant pituitary tumor that produces one or more gonadotropins. C3329 Pituitary Gland Adenoma C90259 NICHD Terminology C45927 Mixed Somatotroph and Lactotroph Adenoma Mixed Somatolactotrope Adenoma An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry. A non-malignant pituitary tumor composed of both acidophilic and chromophobic cells that produce growth hormone and prolactin, respectively. C127194 Growth Hormone and Prolactin-Producing Adenoma C90259 NICHD Terminology C45928 Mammosomatotroph Adenoma Somatolactotrope Adenoma Mammosomatotrope Adenoma || Somatomammotrope Adenoma A pituitary gland adenoma composed of acidophilic cells that produce both growth hormone and prolactin. Immunohistochemical studies reveal the presence of these two hormones localized in the same cell. A non-malignant pituitary tumor composed of acidophilic cells that produce both growth hormone and prolactin. Immunohistochemical studies reveal the presence of these two hormones localized in the same cell. C127194 Growth Hormone and Prolactin-Producing Adenoma C90259 NICHD Terminology C46088 Cesarean Section Cesarean Birth Abdominal Delivery || C-Section || Caesarean Section || Cesarean Delivery || Cesarean Section Surgical delivery of one or more intrauterine fetuses though an abdominal incision. Surgical delivery of one or more intrauterine fetuses though an abdominal incision. C81179 Delivery Procedure C90491 Pregnancy Outcome C90259 NICHD Terminology C4657 Central Nervous System Cyst Central Nervous System Cyst A congenital or acquired cyst that is present in the central nervous system. C2978 Cyst C90259 NICHD Terminology C4672 Testicular Sertoli Cell Tumor Testicular Sertoli Cell Tumor A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course. A Sertoli cell tumor that occurs in the testis. C39976 Sertoli Cell Tumor C6358 Testicular Sex Cord-Stromal Tumor C90259 NICHD Terminology C4673 Acute Biphenotypic Leukemia Acute Biphenotypic Leukemia An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001) An acute leukemia characterized by a single population of blasts that coexpress myeloid and lymphoid antigens. C82179 Mixed Phenotype Acute Leukemia C90259 NICHD Terminology C4691 Complement Deficiency Complement Deficiency A broad classification for rare genetic disorders with mostly autosomal recessive patterns of inheritance. They are caused by the ineffective or decreased biosynthesis of complement components. Complement deficiencies may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If complement components are adequately synthesized, their rapid depletion may result in functional deficiencies. Clinical signs of inherited deficiencies present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Complement deficiencies decrease the effectiveness of the humoral immune response. Of all the complement deficiencies, C3 deficiency is associated with the poorest prognosis since it presents at an early age, when susceptibility to recurrent infection is great. Deficiencies of C3 and of the classical activating pathway components: C1, C4, C2 also predispose to immune complex disease. A genetic deficiency of any component of the complement system, which may be associated with various pathologic conditions depending on the protein and activation pathway involved. C3101 Genetic Disorder C39725 Immunodeficiency C90259 NICHD Terminology C4705 Carney Complex Carney Complex An autosomal dominant disorder most often caused by mutations in the PRKAR1A gene. It is characterized by the presence of myxomas in the heart and skin, skin hyperpigmentation, increased endocrine activity and melanotic schwannomas. An autosomal dominant syndrome most often caused by heterozygous inactivating mutations in a potential tumor suppressor gene, PRKAR1A, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. This condition is characterized by increased risk of myxomas in the heart, psammomatous melanotic schwannomas and letigines, and tumors in many endocrine organs. A distinctive feature of this condition is primary pigmented nodular adrenocortical disease (PPNAD), which results in hyperadrenocortisolism. Pituitary gland involvement includes functional pituitary adenomas that result in excess growth hormone production. C3266 Hereditary Neoplastic Syndrome C90259 NICHD Terminology C4727 Post-Transplant Lymphoproliferative Disorder Post-transplant Lymphoproliferative Disorder Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. (WHO, 2001) Abnormal proliferation of B lymphocytes as a complication of immunosuppression occurring after solid organ or allogenic stem cell transplantation. C3507 Immune System Disorder C90259 NICHD Terminology C4731 Neuropathy Neuropathy A disorder affecting the cranial nerves or the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs. C27580 Peripheral Nervous System Disorder C90259 NICHD Terminology C4738 Desmoplastic Infantile Ganglioglioma Desmoplastic Infantile Ganglioglioma A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO) A WHO grade I large cystic tumor that occurs almost exclusively in infants. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. C27362 Childhood Ganglioglioma C90259 NICHD Terminology C4781 Benign Brain Neoplasm Benign Brain Tumor A primary, slow growing, noninvasive neoplasm of the brain. In children, astrocytomas of the cerebellum represent relatively common benign brain neoplasms. In adults meningiomas, neurilemomas and pituitary tumors comprise the majority of benign tumors. An abnormal intracranial solid mass or growth arising within the brain without histologic features suggesting the potential to metastasize. C2907 Brain Tumor C90259 NICHD Terminology C47813 Hoarseness Dysphonia Hoarseness Harsh and raspy voice secondary to laryngeal infection, voice overuse, irritants inhalation, vocal cord paralysis, vocal cord polyps, and malignant neoplasms arising from or spreading to the larynx. The alteration of voice to a harsh and raspy tone. C100104 Sign or Symptom C90259 NICHD Terminology C47814 Vocal Cord Paralysis Vocal Cord Paralysis Vocal Cord Palsy Paralysis of the muscles of one or both vocal cords. Signs and symptoms include hoarseness, weak voice, dyspnea, and coughing. Affected individuals are at risk for aspiration pneumonia. Nerve injury that results in inability to move the vocal cords. C26835 Nervous System Disorder C118420 Otolaryngologic Disorder C90259 NICHD Terminology C4815 Thyroid Gland Carcinoma Thyroid Carcinoma Thyroid Cancer A carcinoma arising from the thyroid gland. It includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and undifferentiated (anaplastic) carcinoma. A malignant tumor arising from the epithelial cells of the thyroid gland. C9305 Cancer C90259 NICHD Terminology C48155 Gram Gram The metric unit of mass equal to one thousandth of a kilogram. One gram equals approximately 15.432 grains or 0.035 273 966 ounce. C25709 Unit of Measure C90259 NICHD Terminology C4817 Ewing Sarcoma Ewing Sarcoma A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms. A malignant neoplasm of the bone, or the soft tissue adjacent to bone, that is comprised of primitive neuroectodermal cells. C9118 Sarcoma C90259 NICHD Terminology C48259 Hyperparathyroidism Hyperparathyroidism Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes. Elevated concentration of parathyroid hormone. Causes include conditions originating within the parathyroid glands (primary), in response to hypocalcemia and hyperphosphatemia (secondary), and renal disease (tertiary). Characteristics may include polyuria, polydipsia, constipation, lethargy, cognitive dysfunction, hypercalciuria, nephrolithiasis, and bone demineralization or reduced bone mineral density. C3009 Endocrine System Disorder C90259 NICHD Terminology C48280 Primary Hyperparathyroidism Primary Hyperparathyroidism Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Hyperparathyroidism due to a condition originating within the parathyroid glands, resulting in hypercalcemia due to increased release of calcium and phosphate from bone matrix, increased renal calcium reabsorption, and increased renal production of 1,25-dihydroxyvitamin D, which increases intestinal absorption of calcium. Primary hyperparathyroidism is also associated with hypophosphatemia as a result of phosphaturia. Clinical features include weakness, fatigue, nausea, vomiting, constipation, depression, and, if chronic, bone pain, osteoporosis, cystic bone lesions, and kidney stones. C3009 Endocrine System Disorder C90259 NICHD Terminology C48287 Hyperparathyroidism-Jaw Tumor Syndrome Hyperparathyroidism-Jaw Tumor Syndrome HPT-JT || Hyperparathyroidism-2 An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts. An autosomal dominant condition that may be associated with mutation(s) in the CDC73 gene, encoding cell division cycle protein 73 homolog. The condition is characterized by hyperfunctioning parathyroid adenomas and fibro-osseous tumors of the maxilla and mandible. This condition may also be associated with parathyroid carcinoma, Wilms tumor, and Hurthle cell thyroid adenomas. C28193 Syndrome C90259 NICHD Terminology C48500 Inch Inch A traditional unit of length equal to 1/12 of a foot or 2.54 centimeters. C25709 Unit of Measure C90259 NICHD Terminology C48519 Ounce Ounce The traditional unit of mass. The avoirdupois ounce is equal to 1/16 pound, or 28.349 5 grams, or 0.911 457 troy ounce. C25709 Unit of Measure C90259 NICHD Terminology C48531 Pound Pound The traditional unit of mass. By international agreement, one avoirdupois pound is equal to exactly 0.453 592 37 kilogram, 16 ounces, or 1.215 28 troy pounds. C25709 Unit of Measure C90259 NICHD Terminology C48592 Gastrointestinal Hemorrhage Gastrointestinal Bleed Gastrointestinal Hemorrhage Bleeding originating from any part of the gastrointestinal tract. Hemorrhage originating at any site located within the gastrointestinal tract. C26791 Hemorrhage C2990 Gastrointestinal Disorder C90259 NICHD Terminology C4862 Ovarian Sex Cord-Stromal Tumor Ovarian Sex Cord-Stromal Tumor A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor. A sex cord-stromal tumor that occurs in the ovary. C3794 Sex Cord-Stromal Tumor C90259 NICHD Terminology C48627 McCune-Albright Syndrome McCune Albright Syndrome MAS A syndrome characterized by the presence of polyostotic fibrous dysplasia, cafe-au-lait skin lesions, and sexual precocity. It is caused by mutations within the GNAS genetic locus. A syndrome caused by activating somatic mutation(s) in the GNAS gene, encoding guanine nucleotide-binding protein G(s) subunit alpha isoforms short. This syndrome is characterized most commonly by irregular (coast of Maine) cafe-au-lait skin pigmentation, polyostotic fibrous dysplasia, and gonadotropin-independent precocious puberty due to primary gonadal hyperfunction. Other clinical features may include hyperthyroidism, goiter, thyroid nodules, hyperadrenocorticolism, growth hormone excess, and phosphate wasting. C28193 Syndrome C90259 NICHD Terminology C4868 Placental Hemangioma Chorangioma Chorangioma Placentae || Chorangioma of the Placenta || Chorioangioma || Placental Hemangioma A hemangioma arising from the fetal blood vessels in the placental villi. A hemangioma arising from the fetal blood vessels in the placental villi. C3085 Hemangioma C90259 NICHD Terminology C4871 Complete Hydatidiform Mole Complete Hydatidiform Mole Classical Hydatidiform Mole A gestational trophoblastic disorder in which there is no embryo or normal placental tissue and the chorionic villi are hydropic. A placental disorder where the majority of the chorionic villi are hydropic. C3110 Hydatidiform Mole C90259 NICHD Terminology C4872 Breast Carcinoma Breast Cancer A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla. A malignant neoplasm that develops or arises in breast tissue. C9305 Cancer C90259 NICHD Terminology C4875 Reproductive System Disorder Reproductive System Disorder Disorder of Reproductive System A non-neoplastic or neoplastic disorder that affects the male or female genital system. Representative examples of non-neoplastic disorders include infection, testicular torsion, endometriosis, and adenomyosis. Representative examples of neoplastic disorders include germ cell tumors, carcinoma, lymphoma, and sarcoma. C2991 Disease or Disorder C90259 NICHD Terminology C4905 Skin Hemangioma Skin Hemangioma Hemangioma of Skin A hemangioma arising from the skin. C3085 Hemangioma C90259 NICHD Terminology C49052 Joint Effusion Joint Effusion Abnormally increased amount of fluid in a joint cavity, usually as a result of joint inflammation. Excessive fluid within the synovial compartment of a joint. C110937 Musculoskeletal Finding C90259 NICHD Terminology C4909 Cerebral Edema Cerebral Edema Swelling due to an excessive accumulation of fluid in the brain. Excessive accumulation of fluid in the intracellular and/or extracellular spaces of the brain. C3002 Edema C90259 NICHD Terminology C49151 Stillbirth Stillbirth A fetus of at least 20 weeks gestation, or of a birth weight of at least 350 grams if the gestational age is unknown, that is born without signs of life at the time of delivery, and with an Apgar score of zero at both one and five minutes. A fetus of at least 20 weeks gestation, or of a birth weight of 350 grams or greater when the gestational age is not known, with no signs of life at the time of delivery, with Apgar scores of 0 at 1 and 5 minutes. C100104 Sign or Symptom C90259 NICHD Terminology C49204 Anaplastic Embryonal Rhabdomyosarcoma Anaplastic Embryonal Rhabdomyosarcoma A morphologic variant of embryonal rhabdomyosarcoma. It is characterized by the presence of large hyperchromatic and anaplastic cells. A morphologic variant of embryonal rhabdomyosarcoma; it is characterized by the presence of large, hyperchromatic, anaplastic cells. C3359 Rhabdomyosarcoma C90259 NICHD Terminology C49236 Therapeutic Procedure Therapeutic Procedure An action or administration of therapeutic agents to produce an effect that is intended to alter or stop a pathologic process. C25218 Intervention or Procedure C90259 NICHD Terminology C49286 Hematology Test Hematology Test Blood Test || Hematology Procedure A laboratory test to measure hematopoietic components and investigate hematologic disorders in a blood sample. C25294 Laboratory Procedure C90259 NICHD Terminology C49343 Deep Vein Thrombosis Deep Venous Thrombosis Deep Vein Thrombosis A blood clot in a deep vein, predominantly in the lower extremity, but may include the pelvis or upper extremity. Formation of a blood clot within a deep vein. C99107 Venous Thrombosis C90259 NICHD Terminology C49487 No No The non-affirmative response to a question. C25180 Indicator C90259 NICHD Terminology C49488 Yes Yes The affirmative response to a question. C25180 Indicator C90259 NICHD Terminology C49642 Preterm Infant Preterm Infant An age group comprised of infants less than 37 weeks, 0 days gestational age. A newborn infant less than 37 weeks, 0 days gestational age. C16731 Newborn C90259 NICHD Terminology C49668 Centimeter Centimeter A basic unit of length in the former CGS version of metric system, equal to one hundredth of a meter or approximately 0.393 700 787 inch. C25709 Unit of Measure C90259 NICHD Terminology C49672 Vital Signs Measurement Vital Sign Measurement The act of assessing an individual's current temperature, heart rate, respiratory rate, pulse oxygenation, and blood pressure. C18020 Diagnostic Procedure C90259 NICHD Terminology C49676 Pulse Rate Pulse Rate The rate of the pulse as observed in an artery, expressed as beats per minute. It can be measured at several anatomical sites, including the wrist, neck, temple, groin, behind the knees, or on top of the foot. C35552 Cardiovascular System Finding C90259 NICHD Terminology C49677 Heart Rate Heart Rate The number of heartbeats per unit of time, usually expressed as beats per minute. C35552 Cardiovascular System Finding C90259 NICHD Terminology C49678 Respiratory Rate Respiratory Rate The rate of breathing (inhalation and exhalation) measured within in a unit time, usually expressed as breaths per minute. C45233 Respiratory System Finding C90259 NICHD Terminology C4977 Rathke Pouch Cyst Rathke Cleft Cyst Rathke's pouch cysts are rarely symptomatic in the first two decades of life though they may produce symptoms in the third and fourth decades of life. When the cysts do present in the first decades of life, the symptoms are generally associated with diabetes insipidus or other conditions related to hypopituitarism. Benign, epithelium-lined intrasellar cyst that originates from remnants of the Rathke pouch. C2978 Cyst C90259 NICHD Terminology C4980 Acute Graft Versus Host Disease Acute Graft Versus Host Disease A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation. A complication of allogeneic bone marrow or blood cell transplantation, occurring within the first three months of transplantation, in which donor lymphoid cells damage the host tissue. C3063 Graft Versus Host Disease C90259 NICHD Terminology C4981 Chronic Graft Versus Host Disease Chronic Graft Versus Host Disease A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, and may affect multiple organs with manifestations similar to autoimmune diseases. The onset is usually within three years of transplantation or immunologic manipulation. A complication of allogeneic bone marrow or blood cell transplantation, usually occurring more than three months after transplantation, in which donor lymphoid cells damage the host tissue. C3063 Graft Versus Host Disease C90259 NICHD Terminology C4989 Childhood Leukemia Childhood Leukemia An acute or chronic leukemia that occurs during childhood. An acute or chronic leukemia that occurs during childhood and adolescence. C3161 Leukemia C90259 NICHD Terminology C5028 Verrucous Lesion Wart Verruca || Verrucous Lesion A papillomavirus related epithelial overgrowth. It can be located anywhere on the body though when it involves the perineal region it is generally referred to as condyloma acuminatum. A growth on the skin with a thickened, rough surface. C3262 Neoplasm C3371 Skin Disorder C90259 NICHD Terminology C5039 Motor Manifestations Motor Manifestations The presence of an alteration in the ability to move one's body or any body parts in accordance with one's intent. C100104 Sign or Symptom C90259 NICHD Terminology C5041 Speech Disorder Speech Disorder A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders. C26835 Nervous System Disorder C90259 NICHD Terminology C50437 Body Substance Discharge Body Substance Discharge The leakage of a substance from an orifice or wound. The leakage of a substance from an orifice or wound. C100104 Sign or Symptom C90259 NICHD Terminology C50438 Intracranial Hemorrhage Intracranial Hemorrhage Bleeding within the cranium. C2938 Cerebrovascular Disease C26791 Hemorrhage C90259 NICHD Terminology C50441 Contusion Contusion A bruise due to trauma. A bruise due to trauma. C3671 Injury C90259 NICHD Terminology C50445 Hypoesthesia Hypoesthesia Hypesthesia Impairment of tactile sensitivity manifesting as partial loss of sensitivity to sensory stimuli. Decreased sensitivity to tactile stimulation. C28246 Dysesthesia C90259 NICHD Terminology C50446 Laceration Laceration A cut or tear in any tissue. A cut or tear in any tissue. C3671 Injury C90259 NICHD Terminology C50449 Abrasion Abrasion Superficial damage to the skin caused by rubbing or scraping. Superficial damage to the skin caused by rubbing or scraping. C36281 Integumentary System Finding C90259 NICHD Terminology C50455 Air Embolism Air Embolism The presence of bubbles of air in the vascular system; occurrence is related to the entry of air into the venous circulation following trauma or surgery. An obstruction of a blood vessel due to the introduction of air. C26759 Embolism C90259 NICHD Terminology C50458 Ambulation Difficulty Ambulation Difficulty Any persistent problem with walking. Any persistent problem with walking. C100104 Sign or Symptom C90259 NICHD Terminology C50461 Aortic Dissection Aortic Dissection A progressive tear in the tissue lining the aorta, characterized by the passage of blood from the tunica intima into, and partially through, the tunica media. A progressive tear in the aorta characterized by a separation of the medial layer from the outer-most layer. C35117 Vascular Disorder C90259 NICHD Terminology C50462 Aortic Valve Stenosis Aortic Valve Stenosis Narrowing of the orifice of the aortic valve. C45525 Valvular Heart Disorder C90259 NICHD Terminology C50464 Arthralgia Arthralgia Joint Pain Pain in a joint. Pain in a joint. C3303 Pain C100104 Sign or Symptom C90259 NICHD Terminology C50465 Asphyxia Asphyxia A state of general hypoxia and hypercapnea, resulting in acidosis, which affects all tissues in the body. A state of hypoxia and hypercapnea, resulting in acidosis, which affects all tissues in the body. C45233 Respiratory System Finding C90259 NICHD Terminology C50466 Atrial Fibrillation Atrial Fibrillation A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC) An irregular heart rhythm, usually associated with a rapid rate, that is caused by abnormal electrical activity within the atria. C27158 Supraventricular Arrhythmia C90259 NICHD Terminology C50469 Vitreous Hemorrhage Vitreous Hemorrhage Blood extravasation in the vitreous humor. Causes include neovascularization, retinal tear, retinal detachment, and rupture of a blood vessel aneurysm in the eye. Blood in the vitreous. C99208 Eye Finding C90259 NICHD Terminology C50479 Cardiac Arrest Cardiac Arrest The sudden cessation of cardiac activity in an individual who becomes unresponsive, without normal breathing and no signs of circulation. Cardiac arrest may be reversed by CPR, and/or defibrillation, cardioversion or cardiac pacing. Cessation of cardiac function. C50483 Cardiopulmonary Arrest C90259 NICHD Terminology C50481 Cardiac Tamponade Cardiac Tamponade Pericardial Tamponade Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium from rupture of the heart, penetrating trauma, or progressive effusion. Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium. C101327 Pericardial Anomaly C90259 NICHD Terminology C50483 Cardiopulmonary Arrest Cardiopulmonary Arrest Cessation of breathing and/or cardiac function. Cessation of breathing and/or cardiac function. C3079 Heart Disorder C90259 NICHD Terminology C50484 Cephalohematoma Cephalohematoma Cephalhematoma A subperiosteal hemorrhage limited to the surface of one cranial bone, a usually benign condition seen in the newborn as a result of bone trauma. A subperiosteal hemorrhage limited to the surface of one cranial bone. It is seen in the newborn and often related to the birthing process. C81236 Birth Complication C92719 Fetal Disorder C90259 NICHD Terminology C50485 Cerebral Hemorrhage Cerebral Hemorrhage Intracerebral Hemorrhage Bleeding within the cerebrum. Bleeding within the brain tissue. C3390 Cerebrovascular Accident C26791 Hemorrhage C90259 NICHD Terminology C50487 Cerebrospinal Fluid Leakage Cerebrospinal Fluid Leakage The loss of cerebrospinal fluid into the surrounding tissues. The loss of cerebrospinal fluid into the surrounding tissues. C100104 Sign or Symptom C90259 NICHD Terminology C50494 Choking Choking Interference with respiration by compression or obstruction of the larynx or trachea. Interference with respiration by compression or obstruction of the larynx or trachea. C100104 Sign or Symptom C90259 NICHD Terminology C50500 Complete Abortion Complete Abortion Expulsion of all the products of conception following spontaneous, medical or operative pregnancy termination. Expulsion of all the products of conception following spontaneous, medical or operative pregnancy termination. C35221 Abortion C90259 NICHD Terminology C50501 Complete Atrioventricular Block Atrioventricular Block, Third Degree AV Block Third Degree || Complete Atrioventricular Block || Non-Congenital Complete Atrioventricular Block A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC) Complete disassociation of the atrial electrical impulse conduction to the ventricles. C2881 Arrhythmia C90259 NICHD Terminology C50502 Concussion Concussion A violent jar or shock, or the condition which results from such an injury. Traumatic brain injury that results in temporary disturbance of cerebral function without radiographic changes. C3671 Injury C90259 NICHD Terminology C50530 Diabetic Ketoacidosis Diabetic Ketoacidosis DKA The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids. A metabolic derangement characterized by ketosis, acidosis, and often hyperglycemia, as a consequence of absolute or relative insulin deficiency. C3235 Metabolic Disease C90259 NICHD Terminology C50539 Dyskinesia Dyskinesia Abnormality or impairment of voluntary movement. Impairment of voluntary muscle control, characterized by spasmodic or repetitive motions or lack of coordination. C110937 Musculoskeletal Finding C90259 NICHD Terminology C50555 Epidural Hemorrhage Epidural Hemorrhage Intracranial hemorrhage into the epidural space. C50438 Intracranial Hemorrhage C90259 NICHD Terminology C50558 Fall Fall A sudden movement downward, usually resulting in injury. An event which results in an individual coming to rest inadvertently on the ground or lower object. (WHO) C3367 Finding C90259 NICHD Terminology C50559 Fasciitis Fasciitis Inflammation process in fascia. Inflammation of the fascia. C26729 Connective Tissue Disorder C90259 NICHD Terminology C50563 Fetal Distress Nonreassuring Fetal Status Fetal Distress || Fetal Intolerance of Labor Signs or symptoms which may be indicative of distress to a fetus, which may include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile. Signs or symptoms which may be indicative of distress to a fetus, which may include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile. C81236 Birth Complication C92711 Fetal Finding C90259 NICHD Terminology C50564 Fetal Hypoxia Fetal Hypoxia Hypoxia in utero, caused by conditions such as inadequate placental function (often abruptio placentae), preeclamptic toxicity, prolapse of the umbilical cord, or complications from anesthetic administration. C3890 Hypoxia C90259 NICHD Terminology C50575 Alopecia Alopecia Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions. Hair loss usually from the scalp. C3371 Skin Disorder C90259 NICHD Terminology C50577 Heart Failure Heart Failure Cardiac Failure Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction. Inability of the heart to meet tissue metabolic requirements. C3079 Heart Disorder C90259 NICHD Terminology C50579 Hematoma Hematoma A localized collection of blood, usually clotted, in an organ, space, or tissue, due to a break in the wall of a blood vessel. A localized collection of extra vascular blood. C36287 Congenital or Acquired Anatomic Abnormality C90259 NICHD Terminology C50582 Hemothorax Hemothorax A collection of blood in the pleural cavity. The accumulation of blood within the pleural cavity. C45233 Respiratory System Finding C90259 NICHD Terminology C50589 Hyperthermia Hyperthermia A condition characterized by an abnormally high body temperature. In a hyperthermic state, the hypothalamic set-point is normal but body temperature increases and overrides the ability to lose heat, resulting from exogenous heat exposure or endogenous heat production. Elevation of body temperature above normal due to the production or absorption of more heat than the body is able to dissipate. C100104 Sign or Symptom C90259 NICHD Terminology C50590 Hyperventilation Hyperventilation Abnormally prolonged, rapid, and deep breathing. An increase in ventilation manifested by hypocapnea and respiratory alkalosis. C100104 Sign or Symptom C90259 NICHD Terminology C50591 Hypervolemia Hypervolemia Fluid Overload Too much fluid in the blood. Too much fluid in the blood. C9229 Systemic Disorder C90259 NICHD Terminology C50592 Hyphema Hyphema Hemorrhage within the anterior chamber of the eye; bloodshot. Blood in the anterior eye chamber. C99208 Eye Finding C90259 NICHD Terminology C50593 Hypopyon Hypopyon An accumulation of pus in the anterior chamber of the eye. Layering of inflammatory cells in the anterior chamber of the eye. C26767 Eye Disorder C90259 NICHD Terminology C50594 Hypoventilation Hypoventilation A state in which there is a reduced amount of air entering the pulmonary alveoli. A decrease in ventilation resulting in hypercapnea. C45233 Respiratory System Finding C90259 NICHD Terminology C50595 Hypovolemia Hypovolemia Abnormally decreased volume of circulating fluid (plasma) in body. Too little fluid in the blood. C9229 Systemic Disorder C90259 NICHD Terminology C50607 Incompetent Cervix Cervical Insufficiency Cervical Incompetence A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis. A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis. C34941 Pregnancy Complication C90259 NICHD Terminology C50608 Incomplete Abortion Incomplete Abortion The uterus is not entirely emptied of products of conception following spontaneous, medical or operative pregnancy termination. The uterus is not entirely emptied of products of conception following spontaneous, medical or operative pregnancy termination. C35221 Abortion C90259 NICHD Terminology C50617 Intraocular Infection Intraocular Infection Infection within the eye. An infectious process within the eye. C26767 Eye Disorder C90259 NICHD Terminology C50618 Intraocular Pressure Rise Intraocular Pressure Rise Increased Ocular Pressure Increased pressure of the intraocular fluid in the eye. Increased pressure of the intraocular fluid in the eye. C26767 Eye Disorder C90259 NICHD Terminology C50620 Intrauterine Fetal Death Fetal Death Fetal Demise Death of a fetus after 10 weeks gestation. Death of a fetus after 10 weeks gestation. C90491 Pregnancy Outcome C90259 NICHD Terminology C50623 Irritability Irritability Excited response to stimuli. Easily angered, annoyed, or impatient. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C50629 Left Ventricular Dysfunction Left Ventricular Dysfunction Impairment of the left ventricle to either fill or eject adequately. Impairment of the left ventricle to either fill or eject adequately. C111655 Ventricular Dysfunction C90259 NICHD Terminology C50635 Loss of Consciousness Loss of Consciousness An inability to purposefully respond to stimuli. An inability to purposefully respond to stimuli. C100104 Sign or Symptom C90259 NICHD Terminology C50640 Low Blood Oxygen Saturation Low Blood Oxygen Saturation Desaturation A low level of the degree to which oxygen is bound to hemoglobin given as a percentage calculated by dividing the maximum oxygen capacity into the actual oxygen content and multiplying by 100. Oxygen saturation usually is measured using pulse oximetry. A decrease in the concentration of oxyhemoglobin as contrasted to the concentration deoxyhemoglobin in the blood. C100104 Sign or Symptom C90259 NICHD Terminology C50644 Lung Overinflation Lung Overinflation Abnormal permanent enlargement of the lung air spaces distal to terminal bronchiole not resulted from wall destruction, e.g. due to loss of opposite lung. C100104 Sign or Symptom C90259 NICHD Terminology C50652 Missed Abortion Missed Abortion Retention in uterus of an abortus. Retention in uterus of an abortus. C35221 Abortion C90259 NICHD Terminology C50654 Mitral Valve Stenosis Mitral Valve Stenosis Narrowing of the left atrioventricular mitral orifice. C45525 Valvular Heart Disorder C90259 NICHD Terminology C50658 Muscle Weakness Muscle Weakness A reduction in the strength of one or more muscles. Diminished strength in a muscle. C110937 Musculoskeletal Finding C90259 NICHD Terminology C50659 Muscular Rigidity Muscle Rigidity Muscles Rigid An involuntary, persistent state of firm, tense muscles with marked resistance to passive movement. An involuntary, persistent state of firm, tense muscles with marked resistance to passive movement. C110937 Musculoskeletal Finding C90259 NICHD Terminology C50666 Neonatal Deformity Congenital Deformation A congenital anatomic abnormality manifested during the neonatal period. An abnormal form, shape, or positioning of a part of the body in response to unusual physical forces on normal tissues during gestation. C2849 Congenital Malformation C98996 Neonatal Disorder C90259 NICHD Terminology C50685 Pallor Pallor An unusual or extreme paleness, state of decreased skin or mucosal coloration. A condition characterized by an abnormal loss of color to the skin or mucous membranes due to reduced delivery of saturated hemoglobin. C100104 Sign or Symptom C90259 NICHD Terminology C50689 Partial Seizure Focal Seizure Partial Seizure A transitory alteration in movement, sensation or autonomic nerve function due to abnormal electric activity in a localized area of the cerebral cortex, usually without change in awareness or alertness. Symptoms vary with different lesion locations and may include but not limited to the motor (e.g. rhythmic muscle contractions in one area of the body), somatosensory and sensory alterations manifested by abnormal numbness, paresthesias or other hallucinations, including several types of aura; autonomic and psychic symptoms, e.g. with changes in speech, thought, personality, mood, sensation of deja vu or hallucinations. A seizure originating in a circumscribed area of the brain. C2962 Seizure C90259 NICHD Terminology C50693 Esophageal Perforation Esophageal Perforation Perforation of Esophagus The presence of a hole or other type of opening in the esophageal wall through which the contents of the esophagus can pass into the mediastinum. The most common cause of esophageal perforation is injury during a medical procedure such as esophagoscopy or placement of a naso-gastric tube; and pathologic process such as neoplasm or gastric reflux with ulceration. Less common causes include injuries from penetrating or blunt trauma or injury to the esophagus during an operation on another organ, mechanical problem such as violent retching or vomiting; ingestion of a foreign body or caustic agents. The condition often results in infection of the mediastinum and mediastinitis. C79470 Gastrointestinal Perforation C90259 NICHD Terminology C50700 Polydipsia Polydipsia Chronic excessive intake of water; it may be from an organic cause, such as the dehydration of diabetes mellitus, diabetes insipidus, or a reaction to medication, or from a psychological cause. When untreated it can lead to water intoxication. Excessive thirst. C36286 Urinary System Finding C90259 NICHD Terminology C50704 Postoperative Wound Infection Postoperative Wound Infection Infection of a surgical skin incision. Infection of a surgical skin incision. C128320 Infection C2959 Complication C90259 NICHD Terminology C50706 Pressure Sore Decubitus Bedsore || Decubiti || Decubitus Ulcer || Pressure Sore || Pressure Ulcer Death of tissue due to external pressure. Skin damage generally present over a bony prominence that is associated with uninterrupted external pressure. C36281 Integumentary System Finding C90259 NICHD Terminology C50711 Pseudoaneurysm Pseudoaneurysm The creation of hematoma outside the arterial wall following bleeding due to puncture of the arterial wall. Pseudoaneurysms can also occur in the heart chambers following myocardial infarction and bleeding. C35117 Vascular Disorder C90259 NICHD Terminology C50713 Pulmonary Embolism Pulmonary Embolism The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung. The obstruction of blood flow by an embolus within the pulmonary circulation. C26759 Embolism C90259 NICHD Terminology C50715 Pulmonary Stenosis Pulmonary Stenosis Pulmonic Valve Stenosis Narrowing of the opening between the pulmonary artery and the right ventricle, usually at the level of the valve leaflets. C45525 Valvular Heart Disorder C90259 NICHD Terminology C50717 Purulent Discharge Purulent Discharge Pus-containing fluid that is draining from an orifice or wound. Pus-containing fluid that is draining from an orifice or wound. C100104 Sign or Symptom C90259 NICHD Terminology C50720 Pyrogenic Reaction Pyrogenic Reaction Fever reaction due to the presence of bacterial endotoxins. Fever reaction due to the presence of bacterial endotoxins. C100104 Sign or Symptom C90259 NICHD Terminology C50721 Quadriplegia Quadriplegia Bilateral Diplegia Paralysis of all four limbs. Paralysis of all four limbs, or of the entire body below the neck. C2934 Central Nervous System Disorder C90259 NICHD Terminology C50724 Raynaud Phenomenon Raynaud Phenomenon Raynaud's Phenomenon An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease. An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease. C35117 Vascular Disorder C90259 NICHD Terminology Raynaud Disease || Raynaud's Disease C50726 Regurgitation Regurgitation Flow in the opposite direction from normal, as the casting up of undigested food or gas from the stomach, or the backward flowing of blood into the heart, or between the chambers of the heart when a valve is incompetent. C100104 Sign or Symptom C90259 NICHD Terminology C50728 Respiratory Acidosis Respiratory Acidosis A condition in which the blood pH is less than normal, secondary to impaired gas exchange. A condition in which the blood pH is less than normal, secondary to impaired gas exchange. C36292 Laboratory Test Result C90259 NICHD Terminology C50729 Respiratory Alkalosis Respiratory Alkalosis A condition in which the blood pH is greater than normal, secondary to impaired gas exchange. A condition in which the blood pH is greater than normal, secondary to impaired gas exchange. C36292 Laboratory Test Result C90259 NICHD Terminology C50732 Retinal Tear Retinal Tear A usually small tearing of the retina occurring when the vitreous separates from the retina. It may lead to retinal detachment. Symptoms include flashes and floaters. A break or hole in the retina. C26875 Retinal Disorder C90259 NICHD Terminology C50733 Right Ventricular Dysfunction Right Ventricular Dysfunction Impairment of the right ventricular function associated with low ejection fraction and decreased motility of the right ventricular wall. Impairment of the right ventricle to either fill or eject adequately. C111655 Ventricular Dysfunction C90259 NICHD Terminology C50739 Seroma Seroma A collection of serum in the body. A collection of serous fluid within the body. C36287 Congenital or Acquired Anatomic Abnormality C90259 NICHD Terminology C50745 Skull Fracture Skull Fracture Fracture of Skull A traumatic or pathologic injury to the bones of the skull in which the continuity of the bones of the skull is broken. C3046 Fracture C90259 NICHD Terminology C50746 Sneezing Sneezing A symptom consisting of the involuntary expulsion of air from the nose. The involuntary expulsion of air from the nose. C100104 Sign or Symptom C90259 NICHD Terminology C50750 Spinal Cord Injury Spinal Cord Injury Traumatic damage of the spinal cord. C2934 Central Nervous System Disorder C3671 Injury C90259 NICHD Terminology C50751 Spinal Injury Spinal Injury Damage to the spine that results in impaired function. Damage to the spinal cord that results in impaired motor, sensory, or autonomic function. C3671 Injury C90259 NICHD Terminology C50754 Stenosis Stenosis Narrowing or stricture of a vessel, duct or canal. Narrowing of the luminal diameter in a tubular organ or structure. C36287 Congenital or Acquired Anatomic Abnormality C90259 NICHD Terminology C50757 Subarachnoid Hemorrhage Subarachnoid Hemorrhage Intracranial hemorrhage into the subarachnoid space. C50438 Intracranial Hemorrhage C90259 NICHD Terminology C50758 Subclinical Infection Subclinical Infection Asymptomatic Infection Infection associated with no detectable symptoms but caused by microorganisms capable of producing easily recognizable diseases, such a poliomyelitis or mumps. An infection without associated signs or symptoms. C128320 Infection C90259 NICHD Terminology C50759 Subdural Hemorrhage Subdural Hemorrhage Bleeding between the dura mater and the brain, usually secondary to a tear of the bridging vein. C50438 Intracranial Hemorrhage C90259 NICHD Terminology C50761 Subgaleal Hemorrhage Subgaleal Hemorrhage Bleeding between the scalp and the periosteum. C50438 Intracranial Hemorrhage C90259 NICHD Terminology C50764 Lymphadenopathy Lymphadenopathy Adenopathy An enlarged lymph node. Causes include viral and bacterial infections and cancers that affect the lymph nodes. Abnormal enlargement of the lymph nodes. C3507 Immune System Disorder C90259 NICHD Terminology C50767 Tachypnea Tachypnea Fast Breathing Abnormal increase of rate of breathing. An increased rate of respiration. C100104 Sign or Symptom C90259 NICHD Terminology C50772 Tinnitus Tinnitus Abnormal perception of sounds experienced by an individual in the absence of auditory stimulation. Abnormal perception of sounds experienced by an individual in the absence of auditory stimulation. C100104 Sign or Symptom C90259 NICHD Terminology C50779 Torsades De Pointes by ECG Finding Torsades de Pointes An electrocardiographic finding of an atypical rapid polymorphic ventricular tachycardia with a characteristic rotation of the QRS complex around the isoelectric baseline, occurring in the setting of a prolonged QT interval. In addition, the QRS complex displays a periodic waxing and waning of amplitude on the electrocardiogram. An atypical polymorphic ventricular tachycardia that is characterized by fluctuation of the QRS complexes around the baseline. C110938 Tachyarrhythmia C90259 NICHD Terminology C50781 Transient Ischemic Attack Transient Ischemic Attacks A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit. A transient episode of cerebral dysfunction of vascular origin with no persistent neurological deficit. C3390 Cerebrovascular Accident C90259 NICHD Terminology C50783 Tricuspid Valve Stenosis Tricuspid Valve Stenosis Narrowing or stricture of the tricuspid orifice of the heart. C45525 Valvular Heart Disorder C90259 NICHD Terminology C50790 Urinary Retention Urinary Retention Accumulation of urine within the bladder because of the inability to urinate. Inability to completely empty the bladder with urination. C36286 Urinary System Finding C90259 NICHD Terminology C50791 Urinary Tract Infection Urinary Tract Infection UTI || Urinary Tract Infectious Disease A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine. An infection of the kidneys, ureters, bladder and/or urethra. C3430 Urinary System Disorder C26726 Infectious Disorder C90259 NICHD Terminology C50792 Urinary Urgency Urinary Urgency An acute and compelling urge to urinate. An acute and compelling urge to urinate. C100104 Sign or Symptom C90259 NICHD Terminology C50795 Vaginal Discharge Vaginal Discharge Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer. Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer. C100104 Sign or Symptom C90259 NICHD Terminology C50797 Valvular Regurgitation Heart Valve Regurgitation Regurgitation of the blood of the heart valves owning to imperfect closing, insufficiency or incompetency of the valves. C45525 Valvular Heart Disorder C90259 NICHD Terminology C50798 Vasovagal Reaction Vasovagal Reaction Sudden drop of the blood pressure, bradycardia, and peripheral vasodilation that may lead to loss of consciousness. It results from an increase in the activity of the vagus nerve. It may be triggered by emotions of fear or pain or gastrointestinal upset and may be relieved by lying down while keeping the legs elevated. Sudden onset of decreased blood pressure, bradycardia, and peripheral vasodilation resulting from increased activity of the vagus nerve. C100104 Sign or Symptom C90259 NICHD Terminology C50799 Ventricular Fibrillation Ventricular Fibrillation A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC) An irregular heart rhythm, usually associated with a rapid rate, that is caused by abnormal electrical activity within the ventricles. C26924 Ventricular Arrhythmia C90259 NICHD Terminology C50802 Ventricular Tachycardia Ventricular Tachycardia A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC) A tachycardia originating in the ventricles of the heart. C26924 Ventricular Arrhythmia C90259 NICHD Terminology C50804 Blood Vessel Perforation Rupture of Vessel Damage to a blood vessel resulting from a full thickness disruption in the integrity of the vessel wall. Full thickness disruption in the integrity of a blood vessel wall. C35117 Vascular Disorder C90259 NICHD Terminology C50808 Vitreous Floater Floaters Vitreous Floater Spots before the eyes caused by opaque cell fragments in the vitreous humor or lens. Vitreous opacities which present as small moving spots in the visual field. C99208 Eye Finding C90259 NICHD Terminology C50809 Weakness Weakness The property of lacking physical strength. Lacking physical strength. C100104 Sign or Symptom C90259 NICHD Terminology C50843 Tricuspid Valve Regurgitation Tricuspid Valve Regurgitation The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve. C45525 Valvular Heart Disorder C90259 NICHD Terminology C50845 Skin Erosion Erosion Skin Breakdown || Skin Erosion Tearing or wearing off of skin. Tearing or wearing off of skin. C36281 Integumentary System Finding C90259 NICHD Terminology C50850 Oversedated Oversedation A level of sedation that is greater than the intended level. The level of sedation that is greater than the intended level. C100104 Sign or Symptom C90259 NICHD Terminology C50852 Mitral Valve Regurgitation Mitral Valve Regurgitation The backward flow of blood from the left ventricle into the left atrium, owing to insufficiency of the mitral valve; it may be acute or chronic, usually due to mitral valve prolapse, rheumatic heart disease or a complication of cardiac dilatation. C45525 Valvular Heart Disorder C90259 NICHD Terminology C50856 Exsanguination Exsanguination Extensive loss of blood due to internal or external hemorrhage. The extreme loss of blood, which may result in death. C113742 Excessive Bleeding C90259 NICHD Terminology C50863 Wound Dehiscence Wound Disruption Wound Dehiscence Splitting of the sutured margins of a surgical wound. Risk factors include diabetes mellitus, obesity, and advanced age. The separation of the tissues along the healing edges of a surgical repair. C2959 Complication C90259 NICHD Terminology C50896 Intraventricular Brain Hemorrhage Intraventricular Hemorrhage Bleeding into the brain's ventricles. C50438 Intracranial Hemorrhage C90259 NICHD Terminology C50911 Sudden Cardiac Death Sudden Cardiac Death An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms. An unexpected death from a cardiac cause within a short time period from the onset of symptoms. C50483 Cardiopulmonary Arrest C90259 NICHD Terminology C50917 Premature Labor Preterm Labor Premature Labor Regular uterine activity with associated cervical change prior to 37 weeks gestation. Regular uterine activity with associated cervical change prior to 37 weeks gestation. C34941 Pregnancy Complication C90259 NICHD Terminology C51221 Angina Angina Paroxysms of chest pain due to reduced oxygen to the heart. Chest pain secondary to decreased blood flow to cardiac muscle. C100104 Sign or Symptom C90259 NICHD Terminology C51224 Atrial Flutter Atrial Flutter A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC) A rapid heart rate, associated with a regular rhythm, that is caused by abnormal electrical activity within the atria. C27158 Supraventricular Arrhythmia C90259 NICHD Terminology C5132 Childhood Central Nervous System Neoplasm Childhood Central Nervous System Neoplasm A benign or malignant neoplasm of the brain, spinal cord, or meninges occurring in children. Representative examples include posterior fossa astrocytoma, optic pathway glioma, medulloblastoma, ependymoma, and craniopharyngioma. A primary, benign or malignant neoplasm of the brain, spinal cord, or meninges occurring in children. C3268 Nervous System Neoplasm C90259 NICHD Terminology C5136 Childhood Glioblastoma Childhood Glioblastoma A glioblastoma that occurs during childhood. A glioblastoma that occurs during childhood. C9022 Childhood Astrocytic Tumor C5448 Malignant Childhood Central Nervous System Neoplasm C90259 NICHD Terminology C514 Antifungal Agent Antifungal Substances that treat systemic or topical infections caused by fungi. Antifungal agents kill or inhibit the growth of fungi, by various mechanisms. These mechanisms include inhibition of fungal mitosis, impairing synthesis or binding to ergosterol, inhibition of RNA or DNA synthesis, and interfering with other fungal metabolic processes. Substances that kill or inhibit the growth or other functions of fungi and that are used in the treatment of fungal infections. C1909 Pharmacologic Substance C90259 NICHD Terminology C5165 Childhood Lymphoma Childhood Lymphoma A Hodgkin or non-Hodgkin lymphoma that occurs during childhood. A Hodgkin or non-Hodgkin lymphoma that occurs during childhood. C3208 Lymphoma C90259 NICHD Terminology C51934 Complete Excision Complete Resection The surgical removal of an entire structure or organ. Surgical removal of an entire lesion as confirmed by pathology. Surgical margins are clear. C15329 Surgical Procedure C90259 NICHD Terminology C52009 Amniocentesis Amniocentesis A prenatal diagnostic procedure in which a small sample of amniotic fluid is removed from the uterus by a needle inserted into the abdomen. This procedure is used to detect various genetic abnormalities in the fetus and/or the sex of the fetus. A prenatal diagnostic procedure in which a small sample of amniotic fluid is removed from the uterus by a needle inserted into the abdomen. C89340 Obstetric Procedure C90259 NICHD Terminology C5231 Ovarian Leydig Cell Tumor Ovarian Leydig Cell Tumor A rare, benign steroid tumor that arises from the ovary and is composed of Leydig cells that contain Reinke crystals. It usually affects postmenopausal women and in most cases, is associated with androgenic manifestations. A Leydig cell tumor that occurs in the ovary. C3188 Leydig Cell Tumor C90259 NICHD Terminology C5241 Mixed Germ Cell-Sex Cord-Stromal Tumor Mixed Germ Cell-Sex Cord-Stromal Tumor A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable. A biphasic tumor that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells; examples include the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable. C3262 Neoplasm C90259 NICHD Terminology C52582 Referral Referral Sending a patient from one practitioner to another for health care services. C49236 Therapeutic Procedure C90259 NICHD Terminology C52593 Caries Dental Caries Caries || Cavities || Tooth Decay The decay of a tooth, in which it becomes softened, discolored, and/or porous. Demineralization and breakdown of tooth enamel due to bacterial infection. C35077 Dental Disorder C90259 NICHD Terminology C5318 Childhood Meningeal Melanoma Childhood Leptomeningeal Melanoma A melanoma that arises from leptomeningeal melanocytes and occurs in childhood. A melanoma that arises from leptomeningeal melanocytes during childhood. C131506 Childhood Melanoma C5448 Malignant Childhood Central Nervous System Neoplasm C90259 NICHD Terminology C53482 Influenza Influenza Flu An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system. An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system. C3439 Viral Infection C90259 NICHD Terminology C53506 Esophageal Varices Esophageal Varices Abnormally dilated veins of the esophagus. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C53656 Bacterial Conjunctivitis Bacterial Conjunctivitis Inflammation of the conjunctiva caused by a variety of bacterial agents. Conjunctivitis that is caused by bacteria. C83508 Infectious Conjunctivitis C2890 Bacterial Infection C90259 NICHD Terminology C53662 Mastitis Mastitis Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. C116323 Postpartum Complication C90259 NICHD Terminology C53975 Poikiloderma Poikiloderma A localized skin condition commonly associated with sun exposure that is characterized by variegated discoloration, telangiectasia and atrophy. A localized skin condition commonly associated with sun exposure that is characterized by variegated discoloration, telangiectasia and atrophy. C3371 Skin Disorder C90259 NICHD Terminology C54247 Skin Ulcer Skin Ulceration Skin Ulcer A circumscribed and often suppurating skin crater which usually includes loss of skin integrity of the superficial skin or the mucous membranes. A circumscribed and often suppurating skin crater which usually includes loss of skin integrity of the superficial skin or the mucous membranes. C36281 Integumentary System Finding C90259 NICHD Terminology C54282 Rhinorrhea Rhinorrhea A discharge of fluid from the nose. A discharge of fluid from the nose. C100104 Sign or Symptom C90259 NICHD Terminology C54355 Increased Drug Level Increased Drug Level A laboratory test result demonstrating an increased concentration of a specific drug. A laboratory test result demonstrating an increased concentration of a specific drug. C36292 Laboratory Test Result C90259 NICHD Terminology C5447 Childhood Anaplastic Oligodendroglioma Childhood Anaplastic Oligodendroglioma An anaplastic oligodendroglioma that arises from the central nervous system and occurs during childhood. An anaplastic oligodendroglioma that occurs during childhood. C5448 Malignant Childhood Central Nervous System Neoplasm C4045 Childhood Oligodendroglioma C90259 NICHD Terminology C5448 Malignant Childhood Central Nervous System Neoplasm Malignant Childhood Central Nervous System Neoplasm Malignant neoplasms which occur in the brain, spinal cord, or meninges of children. Brainstem gliomas, medulloblastomas, ependymomas, and certain pineal tumors are relatively common primary malignant tumors of the CNS in children. A malignant neoplasm of the brain, spinal cord, or meninges occurring in children. C5132 Childhood Central Nervous System Neoplasm C90259 NICHD Terminology C54685 Tissue Adhesion Tissue Adhesion A fibrous band of tissue that connects normally separate body regions. A fibrous band of tissue that connects normally separate body regions. C36281 Integumentary System Finding C90259 NICHD Terminology C54706 Blood Pressure Blood Pressure The pressure of the circulating blood against the walls of the blood vessels. C25447 Characteristic C90259 NICHD Terminology C5636 Childhood Anaplastic Large Cell Lymphoma Childhood Anaplastic Large Cell Lymphoma An anaplastic large cell lymphoma that occurs during childhood. An anaplastic large cell lymphoma that occurs during childhood. C7706 Childhood Non-Hodgkin Lymphoma C90259 NICHD Terminology C5637 Childhood Mature T-Cell and NK-Cell Non-Hodgkin Lymphoma Childhood Mature T- and NK-Cell Lymphoma A mature T- and NK-cell non-Hodgkin lymphoma that occurs during childhood. A mature T- and NK-cell non-Hodgkin lymphoma that occurs during childhood. C7706 Childhood Non-Hodgkin Lymphoma C90259 NICHD Terminology C5669 Pleuropulmonary Blastoma Pleuropulmonary Blastoma A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas. A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients there is a predisposition for other tumors. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas. C9305 Cancer C90259 NICHD Terminology C5961 Childhood Central Nervous System Embryonal Tumor, Not Otherwise Specified Childhood Central Nervous System Primitive Neuroectodermal Tumor Childhood CNS PNET A central nervous system embryonal tumor, not otherwise specified that occurs in childhood. A primitive neuroectodermal tumor that arises from the central nervous system during childhood. C114833 Childhood Central Nervous System Embryonal Neoplasm C90259 NICHD Terminology C5969 Childhood Brain Stem Neoplasm Childhood Brain Stem Tumor Childhood Brain Stem Neoplasm A neoplasm that affects the brain stem and occurs during childhood. A neoplasm that affects the brain stem and occurs during childhood. C35876 Childhood Intracranial Neoplasm C90259 NICHD Terminology C5970 Childhood Cerebellar Neoplasm Childhood Cerebellar Tumor Childhood Cerebellar Neoplasm A neoplasm that affects the cerebellum and occurs during childhood. A neoplasm that affects the cerebellum and occurs during childhood. C35876 Childhood Intracranial Neoplasm C90259 NICHD Terminology C6041 Thyroid Gland Sarcoma Thyroid Sarcoma A malignant mesenchymal neoplasm primarily involving the thyroid gland. A malignant mesenchymal neoplasm primarily involving the thyroid gland. C3414 Thyroid Tumor C90259 NICHD Terminology C60651 C-Reactive Protein C-Reactive Protein CRP C-reactive protein (224 aa, ~25 kDa) is encoded by the human CRP gene. This protein is cleaved during biological activation and is associated with host defense mechanisms and inflammatory responses. An acute phase reactant used in the evaluation of systemic inflammation. C13236 Body Fluid or Substance C90259 NICHD Terminology C60781 Astrocytoma Astrocytoma A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma. A malignant neoplasm of the central nervous system that arises from astrocytes. C3268 Nervous System Neoplasm C90259 NICHD Terminology C60832 Oxygen Saturation Measurement Oxygen Saturation Measurement The measurement of the ratio of oxygenated hemoglobin to total hemoglobin in the blood. C18020 Diagnostic Procedure C90259 NICHD Terminology C60989 Myasthenia Gravis Myasthenia Gravis A chronic autoimmune neuromuscular disorder characterized by skeletal muscle weakness. It is caused by the blockage of the acetylcholine receptors at the neuromuscular junction. C2889 Autoimmune Disease C90259 NICHD Terminology C61229 Severe Aplastic Anemia Severe Aplastic Anemia SAA Life-threatening anemia associated with a high risk of infection or bleeding. Life-threatening anemia associated with a high risk of infection or bleeding. Historically defined as bone marrow (BM) cellularity <25% (or <50% if <30% of BM is hematopoietic cells), and two or more of the following: absolute neutrophil count of <500; platelet count of <20,000; or a corrected reticulocyte count of <1%. Absence of cytogenetic abnormalities associated with myelodysplastic syndrome or malignancy must be ruled out prior to diagnosis. C2870 Aplastic Anemia C90259 NICHD Terminology C61230 Idiopathic Aplastic Anemia Idiopathic Aplastic Aplasia Aplastic anemia without a known cause. Aplastic anemia without a known cause. C2870 Aplastic Anemia C90259 NICHD Terminology C61231 Aplastic Anemia due to Hepatitis Aplastic Anemia due to Hepatitis Bone marrow failure defined as pancytopenia, secondary to hepatitis. Aplastic anemia associated with a recent episode of hepatitis. C35466 Aplastic Anemia due to Infection C90259 NICHD Terminology C61236 Congenital Pure Red Cell Aplasia Congenital Pure Red Cell Aplasia Diamond-Blackfan Anemia An inherited condition characterized by aplasia of the erythroid series only. The white cells and platelets are not affected. Patients develop anemia usually in infancy. An inherited condition characterized by aplasia of the erythroid series only. The leukocytes and platelets are not affected. Patients develop anemia, usually in infancy. C34974 Pure Red Cell Aplasia C104003 Congenital Hematological Disorder C90259 NICHD Terminology C61237 Sickle Cell-Thalassemia Sickle Cell-Thalassemia Sickle Cell Thalassemia Hemolytic anemia, in which patients are heterozygous for both the sickle cell gene and a thalassemia gene. C34383 Sickle Cell Disease C90259 NICHD Terminology C61249 Glanzmann Thrombasthenia Glanzmann Thrombasthenia A rare, autosomal recessive inherited and less frequently acquired platelet disorder. It is characterized by deficient or dysfunctional glycoprotein IIb/IIIa complex. It leads to defective platelet aggregation, resulting in bleeding. A rare, autosomal recessive inherited, and less frequently acquired, platelet disorder that is characterized by deficient or dysfunctional glycoprotein IIb/IIIa complex, which leads to defective platelet aggregation, resulting in bleeding. C131634 Platelet Abnormality C90259 NICHD Terminology C61250 Lysosomal Storage Disease Lysosomal Storage Disorder Disorder of Lysosomal Enzymes A group of autosomal recessive or X-linked inherited metabolic disorders caused by defects in the function of the lysosomes. Signs and symptoms include hepatomegaly, splenomegaly, nervous system manifestations, skeletal abnormalities, and mental deterioration. Representative examples include Gaucher disease, Niemann-Pick disease, Wolman disease, and Fabry disease. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C61252 Adrenoleukodystrophy Adrenoleukodystrophy Schilder Disease A rare metabolic disorder characterized by damage of the myelin sheaths in the nervous system and degeneration of the adrenal glands. It leads to progressive neurologic disorders, adrenal insufficiency and death. An X-linked recessive condition caused by mutation(s) in the ABCD1 gene, resulting in defective peroxisomal fatty acid oxidation and accumulation of saturated very long chain fatty acids in all tissues of the body. Clinical manifestations of the condition vary in severity, and can include progressive loss of adrenal gland function, Leydig cell dysfunction, and neurodegenerative changes. C85239 Zellweger Syndrome C90259 NICHD Terminology C61254 Krabbe Disease Krabbe Disease Galactosylceramide Beta-Galactosidase Deficiency A rare inherited neurodegenerative disorder that belongs to the group of leukodystrophies. It is characterized by myelin destruction, gliosis in the brain, and the presence of multinucleated globoid cells. Signs and symptoms include irritability, mental and motor developmental disturbances, muscle weakness, seizures, blindness, and deafness. C3492 Enzyme Deficiency C90259 NICHD Terminology C61259 Mucopolysaccharidosis Mucopolysaccharidosis A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, intellectual disabilities, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies. C61250 Lysosomal Storage Disorder C90259 NICHD Terminology C61268 Gaucher Disease Gaucher Disease Glucosylceramide Beta-Glucosidase Deficiency An inherited lysosomal storage disease caused by deficiency of the enzyme glucocerebrosidase. It results in the accumulation of a fatty substance called glucocerebroside in mononuclear cells in the bone marrow, liver, spleen, brain, and kidneys. Signs and symptoms include hepatomegaly, splenomegaly, neurologic disorders, lymphadenopathy, skeletal disorders, anemia and thrombocytopenia. C97092 Lipid Metabolism Disorder C90259 NICHD Terminology C61269 Niemann-Pick Disease Niemann-Pick Disease Sphingomyelin/Cholesterol Lipidosis An autosomal recessive inherited lysosomal storage disease characterized by deficiency of sphingomyelinase. It results in the accumulation of sphingomyelin in the liver, spleen, brain, lungs, and bone marrow. Signs and symptoms include hepatosplenomegaly, pancytopenia, ataxia, dystonia, and dementia. C97092 Lipid Metabolism Disorder C3101 Genetic Disorder C90259 NICHD Terminology C61271 Wolman Disease Lysosomal Acid Lipase Deficiency Wolman Disease || Wolman's Disease A very rare, autosomal recessive inherited lysosomal storage disease caused by mutations in the LIPA gene. Signs and symptoms appear in infancy and include developmental delay, vomiting, abdominal distention, hepatosplenomegaly, jaundice, anemia, steatorrhea, and calcification of the adrenal glands. An autosomal recessive condition caused by mutation(s) in the LIPA gene, resulting in lysosomal acid lipase deficiency, which leads to accumulation of cholesterol esters and triglycerides in many organs. C3101 Genetic Disorder C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C61272 Glycogen Storage Disease Glycogen Storage Disease An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C61274 Fucosidosis Fucosidosis An autosomal recessive lysosomal storage disease characterized by a defective alpha-L-fucosidase. It results in accumulation of fucose in the tissues. Signs and symptoms include psychomotor retardation, dysostosis multiplex, and neural disturbances. C61250 Lysosomal Storage Disorder C3101 Genetic Disorder C90259 NICHD Terminology C61275 Mannosidosis Mannosidosis A rare autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzymes alpha-D-mannosidase or beta-mannosidase. Clinical signs and symptoms include hepatomegaly, splenomegaly, hearing loss, mental retardation, skeletal abnormalities, and recurrent respiratory infections. C61250 Lysosomal Storage Disorder C3101 Genetic Disorder C90259 NICHD Terminology C61277 Psoriatic Arthritis Psoriatic Arthritis Arthritis Psoriatica Joint inflammation associated with psoriasis. An inflammatory arthritis typically associated with dactylitis, nail dystrophy, and the absence of rheumatoid factor in an individual with psoriasis or a family history of psoriasis. C2883 Arthritis C90259 NICHD Terminology Psoriatic Arthropathy C61278 Still Disease Systemic Juvenile Rheumatoid Arthritis (AQ) An inflammatory disorder most often affecting children. It is characterized by the presence of arthritis, salmon-colored rash, spiking fevers, fatigue, and sore throats. An older, deprecated term for a category of juvenile rheumatoid arthritis that manifests with arthritis as well as systemic signs and symptoms, including high fevers, rash, hepatosplenomegaly, lymphadenopathy and anemia. C27179 Juvenile Rheumatoid Arthritis (AQ) C90259 NICHD Terminology Still's Disease || Systemic JRA || Systemic Onset Juvenile Rheumatoid Arthritis || sJRA C61279 Oligoarticular Still Disease Pauciarticular Juvenile Rheumatoid Arthritis (AQ) Juvenile rheumatoid arthritis affecting four or fewer joints, usually asymmetrically. The most commonly affected joints are the knee, elbow, wrist, and ankle. An older, deprecated term for a category of juvenile rheumatoid arthritis that affects fewer than five joints; it most commonly affects the large joints, and is most often asymmetric. C27179 Juvenile Rheumatoid Arthritis (AQ) C90259 NICHD Terminology Oligoarticular JRA || Oligoarticular Juvenile Rheumatoid Arthritis || Pauciarticular JRA C61280 Polyarticular Still Disease Polyarticular Juvenile Rheumatoid Arthritis (AQ) Juvenile rheumatoid arthritis affecting multiple joints, usually symmetrically. It may be associated with low grade fever, anemia, and weight loss. Patients usually test negative for rheumatoid factor. An older, deprecated term for a category of juvenile rheumatoid arthritis that affects five or more joints. A subset of patients are rheumatoid factor positive. C27179 Juvenile Rheumatoid Arthritis (AQ) C90259 NICHD Terminology Polyarticular JRA C61283 Antiphospholipid Syndrome Antiphospholipid Antibody Syndrome Antiphospholipid Syndrome A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease. A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and stillbirth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and certain infections. C2889 Autoimmune Disease C90259 NICHD Terminology C61284 Evans Syndrome Evans Syndrome A rare, chronic and relapsing autoimmune disorder of unknown etiology, characterized by the presence of immune thrombocytopenia and autoimmune hemolytic anemia. An autoimmune disorder of unknown etiology that is characterized by the presence of immune thrombocytopenia and autoimmune hemolytic anemia. C2889 Autoimmune Disease C28193 Syndrome C90259 NICHD Terminology C61420 Gonadal Dysgenesis Gonadal Dysgenesis A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics. Anomalous development of the gonads, resulting in reduced hormone production and germ cell numbers. The gonads are completely or partially underdeveloped and comprise mainly fibrous tissue. C26786 Gonadal Disorder C90259 NICHD Terminology C61429 Sclerosing Peritonitis Sclerosing Peritonitis A rare peritoneal cavity disorder that is characterized by the development of dense fibrous tissue in the peritoneum and the creation of severe adhesions in the abdomen that result in partial or complete small bowel obstruction. It may be idiopathic or develop in patients who receive peritoneal dialysis treatment. Patients present with abdominal distention and pain. Severe scarring resulting from an inflamed peritoneum. C26849 Peritonitis C90259 NICHD Terminology C61443 Amenorrhea Amenorrhea The absence of menses in a woman who has achieved reproductive age. The absence of menses in a female individual who has achieved reproductive age. C27020 Female Reproductive System Disorder C90259 NICHD Terminology C61444 Hirsutism Hirsutism Male-pattern hair growth on a female. Male-pattern hair growth in a female individual. C36281 Integumentary System Finding C90259 NICHD Terminology C61454 Basilar Rales Basilar Rales Basal Crepitations Abnormal breath sounds (crackles) heard on auscultation only in the bases of the lungs. They indicate inflammation, fluid, or infection in the air sacs of the lung. C100104 Sign or Symptom C90259 NICHD Terminology C61469 Thyrotoxicosis Thyrotoxicosis A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis. A syndrome caused by excessive levels of thyroid hormone due to overproduction or excessive release of stored thyroid hormone. C3009 Endocrine System Disorder C90259 NICHD Terminology C62015 AV Block First Degree Atrioventricular Block, First Degree AV Block First Degree A disorder characterized by an electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds. Abnormally slow conduction of atrial electrical impulses to the ventricles. C2881 Arrhythmia C90259 NICHD Terminology C6204 Childhood Central Nervous System Teratoma Childhood Central Nervous System Teratoma A mature or immature teratoma affecting the central nervous system and occurring in children. A mature or immature teratoma that arises from the central nervous system during childhood. C6205 Childhood Central Nervous System Germ Cell Tumor C68626 Childhood Teratoma C90259 NICHD Terminology C6205 Childhood Central Nervous System Germ Cell Tumor Childhood Central Nervous System Germ Cell Tumor A germ cell tumor of the central nervous system occurring in children. A germ cell tumor that arises from the central nervous system during childhood. C7928 Childhood Germ Cell Tumor C5132 Childhood Central Nervous System Neoplasm C90259 NICHD Terminology C6206 Childhood Central Nervous System Choriocarcinoma Childhood Central Nervous System Choriocarcinoma A choriocarcinoma that arises from the central nervous system and occurs during childhood. A choriocarcinoma that arises from the central nervous system during childhood. C6205 Childhood Central Nervous System Germ Cell Tumor C68632 Childhood Extragonadal Malignant Germ Cell Tumor C90259 NICHD Terminology C6208 Childhood Central Nervous System Embryonal Carcinoma Childhood Central Nervous System Embryonal Carcinoma An embryonal carcinoma that arises from the central nervous system and occurs during childhood. An embryonal carcinoma that arises from the central nervous system during childhood. C6205 Childhood Central Nervous System Germ Cell Tumor C68632 Childhood Extragonadal Malignant Germ Cell Tumor C90259 NICHD Terminology C6209 Childhood Central Nervous System Yolk Sac Tumor Childhood Central Nervous System Yolk Sac Tumor A yolk sac tumor that arises from the central nervous system and occurs during childhood. A yolk sac tumor that arises from the central nervous system during childhood. C6205 Childhood Central Nervous System Germ Cell Tumor C68632 Childhood Extragonadal Malignant Germ Cell Tumor C90259 NICHD Terminology C62103 Device Device An object contrived for a specific purpose. C90259 NICHD Terminology C90259 NICHD Terminology C6215 Childhood Anaplastic Astrocytoma Childhood Anaplastic Astrocytoma An anaplastic astrocytoma that arises from the central nervous system and occurs during childhood. An anaplastic astrocytoma that occurs during childhood. C5448 Malignant Childhood Central Nervous System Neoplasm C124275 Childhood Astrocytoma C90259 NICHD Terminology C6216 Childhood Brain Stem Astrocytoma Childhood Brain Stem Astrocytoma An astrocytoma that arises from the brain stem and occurs during childhood. An astrocytoma that arises from the brain stem and occurs during childhood. C124275 Childhood Astrocytoma C9042 Childhood Brain Stem Glioma C90259 NICHD Terminology C62240 Wandering Atrial Pacemaker by ECG Finding Wandering Atrial Pacemaker An electrocardiographic finding of a supraventricular arrhythmia characterized by 3 or more distinct P wave morphologies with an isoelectric baseline, variable PR intervals and no predominant atrial rhythm. The ventricular rate is typically below 100 beats per minute. (CDISC) C27158 Supraventricular Arrhythmia C90259 NICHD Terminology C62505 Fanconi Anemia Fanconi Anemia An autosomal recessive genetic disorder characterized by bone marrow failure, skeletal abnormalities, and an increase incidence of development of neoplasias. A chromosomal instability syndrome that is the most common form of inherited aplastic anemia. It is inherited as an autosomal recessive or X-linked disorder. In addition to bone marrow failure, it is associated with skeletal abnormalities and increased incidence of the development of malignancy. Multiple genes are responsible for Fanconi anemia. C2870 Aplastic Anemia C90259 NICHD Terminology C62545 Burning Mouth Syndrome Burning Mouth Syndrome A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth. Pain in the mouth, not attributed to another disorder, that presents daily and persists for most of the day. C63711 Sensory Disorder C90259 NICHD Terminology C62546 Canker Sore Aphthous Ulcer Aphthous Stomatitis || Canker Sore A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. A term used to describe oral, non-keratinized mucosal ulcerations that are shallow, round to oval with a grayish base, and are usually painful. Recurrent aphthous ulcers are often associated with predisposing factors such as stress, familial tendency, trauma, drug hypersensitivity, or underlying disease such as inflammatory bowel disease, systemic lupus erythematosus, and Behcet disease. C3426 Ulcer C90259 NICHD Terminology C62587 Delayed Puberty Delayed Puberty Constitutional Growth Delay || Pubertal Delay Unusually late sexual maturity. Lack of onset of breast development by the age of 13 years in girls and the absence of testicular enlargement by the age of 13-14 years in boys. C36285 Endocrine System Finding C90259 NICHD Terminology C62591 Hypopituitarism Hypopituitarism A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions. Subnormal concentration of two or more pituitary hormones. C36285 Endocrine System Finding C90259 NICHD Terminology C62601 Retinopathy Retinopathy Any non-neoplastic pathologic conditions of the retina, including non-neoplastic structural anomalies. A disease or disorder of the retina. C26875 Retinal Disorder C90259 NICHD Terminology C62602 Secondary Adrenal Insufficiency Central Adrenal Insufficiency Central Hypoadrenalism A hormonal disorder that occurs when lack of corticotropin-releasing hormone (CRH) secretion from the hypothalamus or adrenocorticotropic hormone (ACTH) secretion from the pituitary is responsible for hypofunction of the adrenal cortex. Diminished production of adrenocortical hormones due to a condition originating in the hypothalamus and/or pituitary gland. C3009 Endocrine System Disorder C90259 NICHD Terminology C62605 Thrombotic Microangiopathy Thrombotic Microangiopathy The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation. The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation. C2902 Coagulation Disorder C90259 NICHD Terminology C6261 Ovarian Granulosa Cell Tumor Ovarian Granulosa Cell Tumor A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis. A granulosa cell tumor that occurs in the ovary. C7287 Ovarian Granulosa-Stromal Tumor C3070 Granulosa Cell Tumor C90259 NICHD Terminology C62651 Allergen Allergen A substance that elicits an allergic reaction. C45306 Substance C90259 NICHD Terminology C62736 Cognitive Assessment Cognitive Assessment The examination of the cognitive capacities or deficits of an individual through the application of tests that probe that individual's ability to perform various mental activities such as perception, learning, and reasoning. C81313 Neurologic Examination C90259 NICHD Terminology C62754 Weight Gain Weight Gain Weight Increase An increase in total body weight. An increase in total body weight. C92720 Pregnancy Finding C100104 Sign or Symptom C90259 NICHD Terminology C62761 Attenuated Bacteria Vaccine Attenuated Bacteria Vaccine Attenuated Live Bacterial Vaccine Any vaccine created by reducing the virulence of bacteria but still keeping the bacteria viable (live). In the production of an attenuated vaccine, the infectious agent is altered so that it becomes harmless or less virulent. This is in contrast to those vaccines produced by "killing" the pathogen (inactivated vaccine). C97116 Attenuated Live Vaccine C90259 NICHD Terminology C62814 Unintended Movement Device Migration Movement of the device to an unintended location within the body. Movement of a medical device to an unintended location within the body. C2959 Complication C90259 NICHD Terminology C6356 Testicular Leydig Cell Tumor Testicular Leydig Cell Tumor A sex cord-stromal tumor that arises from the testis and is characterized by the presence of cells that resemble the successive stages of development of Leydig cells. It usually presents as a painless testicular mass. Gynecomastia is present in approximately thirty percent of the cases. Libido may be decreased. In children, precocious puberty may be present. A minority of cases exhibit malignant characteristics. A Leydig cell tumor that occurs in the testis. C3188 Leydig Cell Tumor C6358 Testicular Sex Cord-Stromal Tumor C90259 NICHD Terminology C6357 Testicular Granulosa Cell Tumor Testicular Granulosa Cell Tumor A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile. A granulosa cell tumor that occurs in the testis. C3070 Granulosa Cell Tumor C6358 Testicular Sex Cord-Stromal Tumor C90259 NICHD Terminology C6358 Testicular Sex Cord-Stromal Tumor Testicular Sex Cord-Stromal Tumor A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group. A sex cord-stromal tumor that occurs in the testis. C3794 Sex Cord-Stromal Tumor C90259 NICHD Terminology C63711 Sensory Disorder Sensory Disorder An interruption or alteration in the sensory activity or functions of the nervous system. C2991 Disease or Disorder C90259 NICHD Terminology C6432 Multiple Endocrine Neoplasia Multiple Endocrine Neoplasia Syndrome(s) MEN Syndromes An autosomal dominant inherited neoplastic syndrome characterized by the development of various endocrine neoplasms and abnormalities in various anatomic sites. There are four types recognized: type 1 (MEN 1), caused by inactivation of the tumor suppressor gene MEN-1, type 2A (MEN 2A), caused by mutation of the RET gene, type 2B (MEN 2B) also caused by mutation of the RET gene, and type 4 (MEN 4) caused by mutation of the CDKN1B gene. Patients with MEN 1 may develop hyperparathyroidism and parathyroid gland adenomas, pituitary gland adenomas, pancreatic islet cell neoplasms, and carcinoid tumors. Patients with MEN 2A develop medullary thyroid carcinomas and may also develop pheochromocytomas and parathyroid gland hyperplasia. Patients with MEN 2B develop medullary thyroid carcinomas and numerous neural defects including neuromas. Patients with MEN 4 develop endocrine neoplasms, particularly in the parathyroid glands, pituitary, and pancreas. A genetically heterogenous group of autosomal dominant neoplastic syndromes characterized by the development of neoplasms in various endocrine organs. C3010 Endocrine Neoplasm C90259 NICHD Terminology C64380 General Anesthesia Procedure General Anesthesia Procedure Actions that render a patient unconscious for the purpose of performing a diagnostic or interventional procedure. C15181 Anesthesia Procedure C90259 NICHD Terminology C64381 Regional Anesthesia Procedure Regional Anesthesia Procedure The administration of pharmaceutical agents intended to produce loss of sensation in a particular anatomical region. C15181 Anesthesia Procedure C90259 NICHD Terminology C64387 Millimole per Liter Millimole per Liter A unit of concentration (molarity unit) equal to one thousandth of a mole (10E-3 mole) of solute per one liter of solution. C25709 Unit of Measure C90259 NICHD Terminology C64813 Thyrotropin Measurement Thyrotropin Measurement Thyroid Stimulating Hormone Measurement A quantitative measurement of the amount of thyrotropin present in a sample. C74742 Hormone Measurement C90259 NICHD Terminology C64848 Hemoglobin Measurement Hemoglobin Measurement A quantitative measurement of the amount of hemoglobin present in a sample. C49286 Hematology Test C90259 NICHD Terminology C6519 Spindle Cell Rhabdomyosarcoma Spindle Cell Rhabdomyosarcoma An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck. An uncommon variant of rhabdomyosarcoma that is characterized by the presence of whorls of spindle cells forming a storiform pattern. In children, it usually arises in the paratesticular region; in adults it usually arises from the deep soft tissues in the head and neck. C3359 Rhabdomyosarcoma C90259 NICHD Terminology C6527 Alloimmunization Alloimmunization Alloimmunisation An immune response to foreign (donor) antigens. An immune system response to foreign human substances. C3507 Immune System Disorder C90259 NICHD Terminology C6539 Childhood Testicular Mixed Embryonal Carcinoma and Teratoma Childhood Testicular Mixed Embryonal Carcinoma and Teratoma A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components. A malignant testicular mixed germ cell neoplasm that occurs in children. C6542 Childhood Testicular Mixed Germ Cell Tumor C123843 Childhood Testicular Non-Seminomatous Germ Cell Tumor C90259 NICHD Terminology C6540 Childhood Testicular Teratoma Childhood Testicular Teratoma A teratoma that arises from the testis during childhood. A mature or immature teratoma that arises from the testis during childhood. C123843 Childhood Testicular Non-Seminomatous Germ Cell Tumor C68626 Childhood Teratoma C90259 NICHD Terminology C6542 Childhood Testicular Mixed Germ Cell Tumor Childhood Testicular Mixed Germ Cell Tumor A malignant mixed germ cell neoplasm that arises from the testis during childhood. A mixed germ cell tumor that arises from the testis during childhood. C123848 Childhood Mixed Germ Cell Tumor C68628 Childhood Malignant Testicular Germ Cell Tumor C90259 NICHD Terminology C6543 Childhood Testicular Yolk Sac Tumor Childhood Testicular Yolk Sac Tumor A yolk sac tumor that arises from the testis during childhood. A yolk sac tumor that arises from the testis during childhood. C123843 Childhood Testicular Non-Seminomatous Germ Cell Tumor C27364 Childhood Yolk Sac Tumor C90259 NICHD Terminology C6544 Childhood Testicular Choriocarcinoma Childhood Testicular Choriocarcinoma A choriocarcinoma that arises from the testis during childhood. A choriocarcinoma that arises from the testis during childhood. C123843 Childhood Testicular Non-Seminomatous Germ Cell Tumor C123844 Childhood Choriocarcinoma C90259 NICHD Terminology C6545 Childhood Testicular Embryonal Carcinoma Childhood Testicular Embryonal Carcinoma An embryonal carcinoma that arises from the testis during childhood. An embryonal carcinoma that arises from the testis during childhood. C123843 Childhood Testicular Non-Seminomatous Germ Cell Tumor C123847 Childhood Embryonal Carcinoma C90259 NICHD Terminology C6546 Childhood Ovarian Embryonal Carcinoma Childhood Ovarian Embryonal Carcinoma An embryonal carcinoma that arises from the ovary and occurs in children. An embryonal carcinoma that arises from the ovary during childhood. C123847 Childhood Embryonal Carcinoma C68629 Childhood Malignant Ovarian Germ Cell Tumor C90259 NICHD Terminology C6547 Childhood Ovarian Immature Teratoma Childhood Ovarian Immature Teratoma An immature teratoma that arises from the ovary and occurs in children. An immature teratoma that arises from the ovary during childhood. C68629 Childhood Malignant Ovarian Germ Cell Tumor C6554 Childhood Ovarian Teratoma C90259 NICHD Terminology C6548 Childhood Ovarian Mature Teratoma Childhood Ovarian Mature Teratoma A mature teratoma that arises from the ovary and occurs in children. A mature teratoma that arises from the ovary during childhood. C6554 Childhood Ovarian Teratoma C123836 Childhood Mature Teratoma C90259 NICHD Terminology C6549 Childhood Ovarian Choriocarcinoma Childhood Ovarian Choriocarcinoma A non-gestational choriocarcinoma that arises from the ovary and occurs in children. A non-gestational choriocarcinoma that arises from the ovary during childhood. C123844 Childhood Choriocarcinoma C68629 Childhood Malignant Ovarian Germ Cell Tumor C90259 NICHD Terminology C6550 Childhood Ovarian Dysgerminoma Childhood Dysgerminoma Childhood Ovarian Germinomatous Germ Cell Tumor A dysgerminoma that arises from the ovary and occurs in children. A dysgerminoma that occurs during childhood. C68629 Childhood Malignant Ovarian Germ Cell Tumor C123838 Childhood Germinomatous Germ Cell Tumor C90259 NICHD Terminology C6551 Childhood Ovarian Yolk Sac Tumor Childhood Ovarian Yolk Sac Tumor A yolk sac tumor that arises from the ovary and occurs in children. A yolk sac tumor that arises from the ovary during childhood. C68629 Childhood Malignant Ovarian Germ Cell Tumor C27364 Childhood Yolk Sac Tumor C90259 NICHD Terminology C6552 Childhood Testicular Germ Cell Tumor Childhood Testicular Germ Cell Tumor A germ cell tumor that arises from the testis during childhood. A germ cell tumor that arises from the testis during childhood. C8591 Testicular Germ Cell Tumor C114801 Childhood Gonadal Germ Cell Tumor C90259 NICHD Terminology C6554 Childhood Ovarian Teratoma Childhood Ovarian Teratoma A teratoma that arises from the ovary and occurs in children. A mature or immature teratoma that arises from the ovary during childhood. C123842 Childhood Ovarian Non-Germinomatous Germ Cell Tumor C68626 Childhood Teratoma C90259 NICHD Terminology C6568 Childhood Renal Cell Carcinoma Childhood Renal Cell Carcinoma A renal cell carcinoma that occurs during childhood. A renal cell carcinoma that occurs during childhood. C123907 Childhood Malignant Kidney Tumor C9385 Renal Cell Carcinoma C90259 NICHD Terminology C6569 Congenital Mesoblastic Nephroma Congenital Mesoblastic Nephroma A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis. A low grade childhood congenital malignant neoplasm arising from the kidney, which is characterized by the presence of fibroblastic cells. C3262 Neoplasm C123907 Childhood Malignant Kidney Tumor C90259 NICHD Terminology C6585 Childhood Osteosarcoma Childhood Osteosarcoma Childhood Osteogenic Sarcoma An osteosarcoma occurring in childhood. An osteosarcoma occurring during childhood. C9145 Osteosarcoma C90259 NICHD Terminology C6586 Extrarenal Rhabdoid Tumor Extrarenal Rhabdoid Tumor A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. A rhabdoid tumor that arises outside of the central nervous system or kidney. C3808 Rhabdoid Tumor C90259 NICHD Terminology C6589 Childhood Parosteal Osteosarcoma Childhood Parosteal Osteosarcoma A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. The prognosis is usually excellent. A parosteal osteosarcoma occurring during childhood. C6585 Childhood Osteosarcoma C90259 NICHD Terminology C6590 Childhood Conventional Osteosarcoma Childhood Conventional Osteosarcoma A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis. A conventional osteosarcoma occurring during childhood. C6585 Childhood Osteosarcoma C90259 NICHD Terminology C66930 Angiotensin II Receptor Antagonist Angiotensin II Receptor Antagonist ARB A class of agents that act by selectively inhibiting angiotensin II receptor activation in the renin-angiotensin-aldosterone system. Angiotensin II receptor antagonists bind to and block the activation of angiotensin II type 1 (AT1) receptors, thereby reducing production and secretion of aldosterone, amongst other actions. The combined effects result in reduction of blood pressure. Although this class of agents is also used in diabetic nephropathy (kidney damage due to diabetes) and congestive heart failure, it is primarily used for the treatment of hypertension in cases where the patient is intolerant of ACE inhibitor therapy. A pharmaceutical agent that selectively inhibits angiotensin II receptor activation in the renin-angiotensin-aldosterone system reducing production and secretion of aldosterone, amongst other actions. The combined effects result in reduction of blood pressure. It is primarily used for the reduction of proteinuria and the treatment of hypertension in cases where the patient is intolerant of ACE inhibitor therapy. C1909 Pharmacologic Substance C90259 NICHD Terminology C67015 Milligram per Deciliter Milligram per Deciliter A unit of mass concentration defined as the concentration of one milligram of a substance in unit volume of the mixture equal to one cubic deciliter or 100 cubic centimeters. It is also a unit of mass density (volumic mass) defined as the density of substance which mass equal to one milligram occupies the volume one cubic deciliter or 100 cubic centimeters. C25709 Unit of Measure C90259 NICHD Terminology C6727 Neurofibromatosis Neurofibromatosis Neurofibromatosis Syndrome An autosomal dominant hereditary neoplastic syndrome. Two distinct clinicopathological entities are recognized: neurofibromatosis type 1 and neurofibromatosis type 2. Neurofibromatosis type 1 is associated with the presence of cafe-au-lait cutaneous lesions, multiple neurofibromas, malignant peripheral nerve sheath tumors, optic nerve gliomas, and bone lesions. Neurofibromatosis type 2 is associated with the presence of schwannomas, meningiomas, and gliomas. C84348 Phakomatosis C90259 NICHD Terminology C67326 Nanogram per Deciliter Nanogram per Deciliter A unit of mass concentration defined as the concentration of one nanogram of a substance per unit volume of the mixture equal to one deciliter. The concept also refers to the unit of mass density (volumic mass) defined as the density of substance which mass equal to one nanogram occupies the volume of one deciliter. C25709 Unit of Measure C90259 NICHD Terminology C67383 Epidermolysis Bullosa Epidermolysis Bullosa An autosomal recessive inherited skin disorder caused by mutations in the genes encoding keratins 5 and 14, collagen VII or laminin 5. It is characterized by skin fragility and the formation of blisters. The blisters may become large and ulcerated, resulting in skin infections and loss of body fluids. C97075 Hereditary Connective Tissue Disorder C90259 NICHD Terminology C67405 Microinternational Unit per Milliliter Microinternational Unit per Milliliter Unit of arbitrary substance concentration (biologic activity concentration) defined as the concentration of one millionth of international unit per one milliliter of system volume. C25709 Unit of Measure C90259 NICHD Terminology C67494 FLT3 Internal Tandem Duplication FLT3 Internal Tandem Duplication FLT3-ITD Mutation A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis. A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene, and which results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myeloid leukemia. C36292 Laboratory Test Result C90259 NICHD Terminology C68615 Birth Date Birth Date The calendar date on which a person was born. C25164 Date C90259 NICHD Terminology C68626 Childhood Teratoma Childhood Teratoma A mature or immature teratoma occurring in children. A mature or immature teratoma occurring in children. C3403 Teratoma C123841 Childhood Non-Germinomatous Germ Cell Tumor C90259 NICHD Terminology C68627 Childhood Extracranial Germ Cell Tumor Childhood Extracranial Germ Cell Tumor A childhood benign or malignant germ cell tumor arising from an anatomic site other than the brain. A childhood benign or malignant germ cell tumor arising from an anatomic site other than the brain. C7928 Childhood Germ Cell Tumor C90259 NICHD Terminology C68628 Childhood Malignant Testicular Germ Cell Tumor Childhood Malignant Testicular Germ Cell Tumor A malignant germ cell tumor in children arising from the testis. It includes the embryonal carcinoma, yolk sac tumor, choriocarcinoma, and mixed germ cell tumors. A malignant germ cell tumor in children arising from the testis. C6552 Childhood Testicular Germ Cell Tumor C90259 NICHD Terminology C68629 Childhood Malignant Ovarian Germ Cell Tumor Childhood Malignant Ovarian Germ Cell Tumor A malignant germ cell tumor in children arising from the ovary. It includes the dysgerminoma, yolk sac tumor, choriocarcinoma, embryonal carcinoma and immature teratoma. A malignant germ cell tumor in children arising from the ovary. C8588 Childhood Ovarian Germ Cell Tumor C90259 NICHD Terminology C68632 Childhood Extragonadal Malignant Germ Cell Tumor Childhood Extragonadal Malignant Germ Cell Tumor A malignant germ cell tumor in children arising from an anatomic site other than the testis or ovary. A malignant germ cell tumor that arises from an anatomic site other than the testis or ovary during childhood. C3918 Extragonadal Germ Cell Tumor C90259 NICHD Terminology C68634 Childhood Atypical Teratoid/Rhabdoid Tumor Childhood Atypical Teratoid/Rhabdoid Tumor An atypical teratoid/rhabdoid tumor occurring in children. A rare, clinically aggressive tumor of the CNS that most often affects children aged 3 years and younger, but that can occur in older children and adults. C5132 Childhood Central Nervous System Neoplasm C90259 NICHD Terminology C68659 Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34;q11.2); BCR-ABL1 Philadelphia-Positive ALL A B-cell acute leukemia occurring in childhood. It is characterized by the presence of lymphoblasts that carry a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. It has an unfavorable clinical outcome. Acute lymphoblastic leukemia occurring during childhood that is characterized by the presence of the Philadelphia chromosome t(9;22), which leads to production of a BCR-ABL1 fusion protein with tyrosine kinase activity. C9140 Childhood B Acute Lymphoblastic Leukemia C90259 NICHD Terminology C68677 von Willebrand Disease von Willebrand Disease von Willebrand Disorder Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding. Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include mucocutaneous bleeding. C27215 Coagulation Factor Deficiency C2902 Coagulation Disorder C90259 NICHD Terminology C68692 Childhood Nasal Type Extranodal NK/T-Cell Lymphoma Childhood Nasal Type Extranodal NK/T-Cell Lymphoma A nasal type extranodal NK/T-cell lymphoma occurring in childhood. A nasal type of non-anaplastic peripheral NK/T cell lymphoma occurring during childhood. C7706 Childhood Non-Hodgkin Lymphoma C90259 NICHD Terminology C68744 Childhood Myelodysplastic Syndrome Childhood Myelodysplastic Syndrome Childhood MDS An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults. An uncommon hematologic malignancy occurring during childhood. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults. Childhood MDS includes persistent cytopenia with less than 20% blasts. C3247 Myelodysplastic Syndrome C90259 NICHD Terminology C6897 Cystic Partially Differentiated Kidney Nephroblastoma Cystic Partially Differentiated Nephroblastoma A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative. A rare, cystic variant of Wilms tumor wholly comprising cysts in which their thin septa form the only solid portion of the tumor. C40407 Nephroblastoma C90259 NICHD Terminology C69142 Childhood Classic Hodgkin Lymphoma Childhood Classical Hodgkin Lymphoma A classic Hodgkin lymphoma that occurs during childhood. A classical Hodgkin lymphoma that occurs during childhood. Four subtypes are included: mixed cellularity, nodular sclerosis, lymphocyte-depleted, lymphocyte-rich. C7714 Childhood Hodgkin Lymphoma C90259 NICHD Terminology C6920 Hand-Schuller-Christian Disease Multifocal Unisystem Langerhans Cell Histiocytosis Classic Multifocal Langerhans Cell Histiocytosis || Hand-Schüller-Christian Disease A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions. A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions. C123396 Childhood Langerhans Cell Histiocytosis without Risk Organ Involvement C90259 NICHD Terminology C6923 Acute Bilineal Leukemia Acute Bilineal Leukemia An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001) An acute leukemia in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). C82179 Mixed Phenotype Acute Leukemia C90259 NICHD Terminology C6924 Acute Myeloid Leukemia with Variant MLL Translocations Acute Myeloid Leukemia with Variant MLL Translocations AML with Variant MLL Translocations A term referring to acute myeloid leukemias with rearrangement of the MLL gene which results in translocations with various genes other than the MLLT3 (AF9) gene. A term referring to acute myeloid leukemias with rearrangement of the MLL gene which results in translocations with more than 50 partner genes other than the MLLT3 (AF9) gene. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C90259 NICHD Terminology C69284 R-R Interval R-R Interval R-R Wave Period The time measurement between the R wave of successive heartbeats as measured in milliseconds. C92790 Fetal Heart Rate Variability C90259 NICHD Terminology C6966 Pineocytoma Pineocytoma Benign Pinealoma || Pinealocytoma A WHO grade I slow growing tumor, more frequently affecting young adults. It is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation. Pineocytoma generally has a relatively favorable prognosis. (Adapted from WHO) A benign, slow growing, pineal parenchymal tumor that more frequently affects young adults. C115196 Childhood Pineal Parenchymal Cell Neoplasm C90259 NICHD Terminology C6985 Invasive Hydatidiform Mole Invasive Hydatidiform Mole A complete hydatidiform mole or very rarely a partial mole that invades the myometrium. A complete hydatidiform mole or very rarely a partial mole that invades the myometrium. C3110 Hydatidiform Mole C90259 NICHD Terminology C70428 Serositis Serositis Inflammation of a serous membrane. Inflammation of the serous tissues; specifically, it may refer to inflammation of the pleura, pericardium, or peritoneum. C2889 Autoimmune Disease C90259 NICHD Terminology C7054 Childhood Lymphocyte-Rich Classic Hodgkin Lymphoma Childhood Lymphocyte-Rich Classical Hodgkin Lymphoma Lymphocyte-rich classic Hodgkin lymphoma occurring in childhood. A lymphocyte-rich, classical Hodgkin lymphoma that occurs during childhood. C69142 Childhood Classical Hodgkin Lymphoma C90259 NICHD Terminology C70547 Antinuclear Antibody Antinuclear Antibody ANA An autoimmune antibody that is directed against structures within the nucleus of the cell. A class of autoantibodies that are directed against structures within the nucleus of the cell. They can be associated with rheumatic disease, but may be present in unaffected individuals. C16295 Antibody C90259 NICHD Terminology C70548 Acquired Pure Red Cell Aplasia Acquired Pure Red Cell Aplasia A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia and selective erythroid hypoplasia. It can occur as a chronic or acute form; the former is predominantly seen in adults and the latter in children. Pathogenesis involves immune dysfunction with antibodies directed against erythroid precursor cells or erythropoietin, or due to T-cell mediated suppression of erythropoiesis. A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia. It can occur as a chronic or acute form; the former is predominantly seen in adults, and the latter in children. C34974 Pure Red Cell Aplasia C90259 NICHD Terminology C70549 Microscopic Polyarteritis Microscopic Polyangiitis MPA A systemic necrotizing vasculitis that typically affects the small and medium-sized muscular arteries. In some cases, however, microscopic vessels are also affected (e.g., in the kidneys), a condition that has been called microscopic polyarteritis or polyangiitis; this disorder is felt to be more closely associated with Wegener granulomatosis than to classic polyarteritis nodosa. Systemic vasculitis affecting small vessels that is necrotizing and non-granulomatous, with little to no immune complex deposition. Clinically it is characterized by involvement of the kidneys, skin, lung, and peripheral nerves. Antineutrophil cytoplasmic antibody (anti-myeloperoxidase (anti-MPO)) is positive in most cases. C26912 Vasculitis C90259 NICHD Terminology Microscopic Polyarteritis C70611 Complement Hemolytic Activity Assay Complement Hemolytic Activity Assay CH50 || Total Hemolytic Activity Assay || Total Hemolytic Complement 50% A screening assay for circulating complement proteins in which diluted serum samples are added to antibody-coated erythrocytes and the percentage of cell lysis is measured. The values are expressed in hemolytic complement units per milliliter (CH50), the dilution of serum required to lyse 50 percent of the erythrocytes in the assay. A functional measurement of the ability of serum complement proteins to lyse target cells via classical activation that measures function of all complement components C1-C9. The CH50 is the reciprocal of the dilution of serum that induces lysis of 50% of target cells in a standardized assay. C25294 Laboratory Procedure C90259 NICHD Terminology C70613 Drug/Toxin-Induced Aplastic Anemia Drug/Toxin-Induced Aplastic Anemia Bone marrow failure defined as pancytopenia, due to exposure to a known toxin or drug. Aplastic anemia caused by exposure to a toxin or drug. C2870 Aplastic Anemia C90259 NICHD Terminology C70618 Complement Component-4 Complement C4 C4 Complement component-4 (1744 aa, ~193 kDa) is part of the complement cascade, which mediates the innate immune response to infection. The full length protein is a precursor that is secreted as a trimeric molecule containing an alpha, beta and gamma chain. When the complement cascade is initiated, the protein is cleaved. This proteolysis releases both the alpha chain, C4 anaphylatoxin, which stimulates inflammation, and a dimer of the beta and gamma chains, which mediates the interaction between the antigen-antibody complex and other complement components. An early component of the classical and mannose binding lectin (MBL) complement activation pathways. C4 is consumed by proteolysis upon activation of the classical and MBL pathways, but not the alternative pathway. C4 levels are generally low in active immune complex diseases mediated by classical or MBL activation, but not alternative activation, with the canonical example being systemic lupus erythematosus. C13236 Body Fluid or Substance C90259 NICHD Terminology C70620 Lupus Anticoagulant Antibody Lupus Anti-Coagulant Antibody LA || LAC || Lupus Anti-Coagulant Antibodies directed against plasma proteins (such as beta-2-glycoprotein I, prothrombin, or annexin V) bound to anionic phospholipids. The anticoagulant blocks in vitro assembly of the prothrombinase complex, resulting in prolongation of in vitro clotting assays such as the activated partial thromboplastin time, the Russell viper venom time, and others. Paradoxical to these changes which suggest impaired coagulation, patients with the lupus anticoagulant have an increase in thrombotic events. An antibody that results in a paradoxical prolongation of phospholipid-dependent clotting tests, such as the partial thromboplastin time, but in increases the propensity for thrombosis in the patient. C16295 Antibody C90259 NICHD Terminology C70646 CREST Syndrome Limited Cutaneous Systemic Sclerosis CREST Syndrome || lSSc || lcSSc A variant of systemic sclerosis characterized by calcinosis, Raynaud phenomenon, esophageal motility disorders, sclerodactyly, and telangiectasia. A variant of systemic scleroderma characterized by features such as calcinosis, Raynaud phenomenon, esophageal motility disorders, sclerodactyly, and telangiectasia. C72070 Systemic Sclerosis C90259 NICHD Terminology C70647 Sicca Syndrome Sicca Syndrome A constellation of symptoms that include abnormal dryness of the mouth, eyes and other mucous membranes. The condition is seen in patients with Sjogren syndrome, sarcoidosis, amyloidosis, and deficiencies of vitamins A and C. A syndrome of dry eyes and/or dry mouth due to autoimmune destruction of the lacrimal and salivary glands, respectively. It is one of the major manifestations of Sjogren syndrome. C2889 Autoimmune Disease C90259 NICHD Terminology C70766 Quantitative Concept Quantitative Concept Capable of being estimated or expressed with numeric values. C20189 Property or Attribute C90259 NICHD Terminology C7093 Hepatoblastoma with Pure Fetal Epithelial Differentiation Hepatoblastoma with Pure Fetal Epithelial Differentiation A hepatoblastoma composed of small cells resembling the fetal hepatocytes, forming thin trabeculae. A hepatoblastoma comprising small cells resembling the fetal hepatocytes, forming thin trabeculae. C3728 Hepatoblastoma C90259 NICHD Terminology C70933 High Test Reference Range High Test Reference Range Reported upper limit of the test reference range. C38013 Range C90259 NICHD Terminology C70934 Low Test Reference Range Low Test Reference Range Reported low limit of the test reference range. C38013 Range C90259 NICHD Terminology C7094 Hepatoblastoma with Combined Fetal and Embryonal Epithelial Differentiation Hepatoblastoma with Combined Fetal and Embryonal Epithelial Differentiation A hepatoblastoma composed of cells resembling fetal epithelial cells and small round cells resembling blastema cells. A hepatoblastoma comprising cells resembling fetal epithelial cells and small round cells resembling blastema cells. C3728 Hepatoblastoma C90259 NICHD Terminology C7096 Small Cell Undifferentiated Hepatoblastoma Small Cell Undifferentiated Hepatoblastoma A hepatoblastoma composed exclusively of noncohesive sheets of small undifferentiated cells. A hepatoblastoma exclusively comprising noncohesive sheets of small undifferentiated cells. C3728 Hepatoblastoma C90259 NICHD Terminology C7097 Mixed Epithelial and Mesenchymal Hepatoblastoma Mixed Epithelial and Mesenchymal Hepatoblastoma A hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component. A hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component. C3728 Hepatoblastoma C90259 NICHD Terminology C71034 Prolonged QT Interval by ECG Finding QT Prolongation An electrocardiographic finding in which the QT interval not corrected for heart rate is prolonged. Thresholds for different age, gender, and patient populations exist. (CDISC) An electrocardiographic finding in which the QT interval corrected for heart rate is prolonged. C35552 Cardiovascular System Finding C90259 NICHD Terminology C71079 Herpes Zoster Zoster Herpes Zoster || Shingles A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area. Varicella zoster virus infection that is caused by the reactivation of virus, which can be latent within dorsal root ganglia; zoster is characterized by vesicular lesions clustered unilaterally in a dermatomal distribution of one or more adjacent sensory nerves. Neuralgic pain can occur and can be severe. C96407 Varicella Zoster Infection C90259 NICHD Terminology C71091 Varicella Zoster Virus Varicella Zoster Virus An icosahedral, enveloped virus containing a single molecule of linear double-stranded DNA of 125000 nucleotides that infects only humans. It is the causative agent of chickenpox and shingles. C14283 Virus C90259 NICHD Terminology C7133 Ovarian Sertoli Cell Tumor Ovarian Sertoli Cell Tumor A rare, typically benign ovarian neoplasm composed of Sertoli cells. Patients may present with pseudoprecocity, menometrorrhagia, amenorrhea, hirsutism, and hoarseness. Rarely it may invade the ovarian stroma and extend beyond the ovary. A Sertoli cell tumor that occurs in the ovary. C39976 Sertoli Cell Tumor C39966 Ovarian Sertoli-Stromal Tumor C90259 NICHD Terminology C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities Acute Myeloid Leukemia with Recurrent Genetic Abnormalities AML with Recurrent Genetic Abnormalities A group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations. (WHO, 2001) A group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations. (WHO, 2001) C3171 Acute Myeloid Leukemia C90259 NICHD Terminology C71901 Syngeneic Syngeneic Denoting individuals or tissues that are genetically identical. Taken from individuals that are genetically identical. C92722 Qualitative Concept C90259 NICHD Terminology C72069 Localized Scleroderma Localized Scleroderma Morphea A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. Localized scleroderma typically affects the skin, with formation of patches or lines of thick and unyielding tissue; there can be muscle and underlying tissue involvement as well as occasional joint complications. The affected areas of skin can be restrictive and disfiguring. The shape, depth and location of the affected area is used to classify one of the four types of local scleroderma. An individual can have a combination of localized scleroderma types. An autoimmune disorder marked by excessive production of collagen resulting in hardening and thickening of skin, with formation of patches or lines of thick and unyielding tissue. There can also be musculoskeletal and underlying tissue involvement. The affected areas of skin can be restrictive and disfiguring. C26746 Scleroderma C90259 NICHD Terminology C72070 Systemic Scleroderma Systemic Sclerosis Diffuse Scleroderma || SSc, Diffuse Sclerosis || Systemic Scleroderma A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension. A heterogeneous disorder characterized by small vessel vasculopathy, autoantibodies, and fibroblast dysfunction which results in hardening and thickening of body tissue. The clinical manifestations vary with the majority of the patients having skin thickening and involvement of internal organs. C26746 Scleroderma C90259 NICHD Terminology C7209 Childhood B Lymphoblastic Lymphoma Childhood B Lymphoblastic Lymphoma A B lymphoblastic lymphoma that occurs during childhood. A B lymphoblastic lymphoma that occurs during childhood. C9124 Childhood Lymphoblastic Lymphoma C90259 NICHD Terminology C7210 Childhood T Lymphoblastic Lymphoma Childhood T Lymphoblastic Lymphoma A T lymphoblastic lymphoma that occurs during childhood. A T lymphoblastic lymphoma that occurs during childhood. C9124 Childhood Lymphoblastic Lymphoma C90259 NICHD Terminology C7211 Childhood Primary Cutaneous Anaplastic Large Cell Lymphoma Childhood Primary Cutaneous Anaplastic Large Cell Lymphoma An anaplastic large cell lymphoma that occurs during childhood and is limited to the skin at the time of diagnosis. An anaplastic large cell lymphoma that occurs during childhood, and is limited to the skin at the time of diagnosis. C5636 Childhood Anaplastic Large Cell Lymphoma C90259 NICHD Terminology C7287 Ovarian Granulosa-Stromal Cell Tumor Ovarian Granulosa-Stromal Tumor A group of sex cord-stromal tumors that arise from the ovary. These tumors are characterized by the presence of granulosa cells, stromal cells, and/or theca cells. This group includes granulosa cell tumor and tumors of the thecoma/fibroma group. A granulosa cell-stromal tumor that occurs in the ovary. C4862 Ovarian Sex Cord-Stromal Tumor C90259 NICHD Terminology C7289 Juvenile Type Ovarian Granulosa Cell Tumor Juvenile Type Ovarian Granulosa Cell Tumor A granulosa cell tumor that affects females in the first three decades of life. In young girls it may present with pseudoprecocity. In women during reproductive years, it may present with menstrual abnormalities. A granulosa cell tumor that affects females within the first three decades of life. C6261 Ovarian Granulosa Cell Tumor C4207 Juvenile Type Granulosa Cell Tumor C90259 NICHD Terminology C7318 Acute Monoblastic and Monocytic Leukemia Acute Monoblastic and Monocytic Leukemia Acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage, including monoblasts, promonocytes, and monocytes. Bleeding disorders are common presenting features. Acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage, including monoblasts, promonocytes, and monocytes. C3171 Acute Myeloid Leukemia C90259 NICHD Terminology C7320 Childhood Chronic Myelogenous Leukemia, BCR-ABL1 Positive Childhood Chronic Myelogenous Leukemia, BCR-ABL1 Positive A chronic myelogenous leukemia occurring during childhood. A BCR-ABL1 positive chronic myelogenous leukemia occurring during childhood. C4989 Childhood Leukemia C90259 NICHD Terminology C7321 Ovarian Mixed Germ Cell-Sex Cord-Stromal Tumor Ovarian Mixed Germ Cell-Sex Cord-Stromal Tumor A neoplasm that arises from the ovary and is characterized by the presence of germ cell and sex cord-stromal tissues that are intimately admixed. If there is no malignant germ cell component present, the clinical course is benign. A mixed germ cell-sex cord-stromal tumor that occurs in the ovary. C5241 Mixed Germ Cell-Sex Cord-Stromal Tumor C90259 NICHD Terminology C7322 Testicular Mixed Germ Cell-Sex Cord-Stromal Tumor Testicular Mixed Germ Cell-Sex Cord-Stromal Tumor A tumor that arises from the testis and is characterized by the presence of a neoplastic germ cell component and a neoplastic sex cord-stromal component. A mixed germ cell-sex cord-stromal tumor that occurs in the testis. C5241 Mixed Germ Cell-Sex Cord-Stromal Tumor C90259 NICHD Terminology C73425 Sleep Sleep A natural and periodic state of rest during which consciousness of the world is suspended. C16326 Behavior C90259 NICHD Terminology C73435 Gravida Gravida A woman who currently is pregnant or has been in the past, irrespective of the pregnancy outcome. A woman who currently is pregnant or has been in the past, irrespective of the pregnancy outcome. C25447 Characteristic C90259 NICHD Terminology C73437 Apgar Score Apgar Score The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. C118807 Newborn or Infant Finding C90259 NICHD Terminology C73501 Perinatal Brain Injury Perinatal Brain Injury Injury to the brain of a newborn infant occurring around the time of birth. Injury to the brain of a newborn infant occurring around the time of birth. C3671 Injury C90259 NICHD Terminology C73502 Cardiac Perforation Cardiac Perforation The presence of an acquired hole in the heart. Cardiac perforation may or may not be symptomatic and may or may not be self sealing. (ACC) The presence of an acquired hole in the heart. C3079 Heart Disorder C90259 NICHD Terminology C73506 Anger Anger An emotional state characterized by marked annoyance or hostility. An emotional state characterized by marked annoyance or hostility. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C73511 Bruxism Bruxism Teeth Grinding Excessive clenching of the jaw and grinding of the teeth. Excessive clenching of the jaw and grinding of the teeth. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C74533 Restlessness Restlessness An inability to rest, relax, or be still. A feeling of unrest or the need to move, and/or an inability to feel calm, relaxed, or be still. C5039 Motor Manifestations C90259 NICHD Terminology C74534 Sadness Sadness Feelings of grief or unhappiness. An emotional state characterized by feelings of unhappiness or grief. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C7461 Somatotroph Adenoma Growth Hormone-Producing Adenoma An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly. A non-malignant pituitary tumor that produces growth hormone. C3329 Pituitary Gland Adenoma C90259 NICHD Terminology C74611 Erythrocyte Sedimentation Rate Measurement Erythrocyte Sedimentation Rate ESR || Sed Rate A quantitative measurement of the distance that red blood cells travel in one hour in a sample of unclotted blood. A quantitative measurement of the distance that red blood cells settle in one hour in a sample of unclotted blood. Used in the evaluation of systemic inflammation. C25294 Laboratory Procedure C90259 NICHD Terminology C7462 Corticotroph Adenoma ACTH-Producing Pituitary Adenoma An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion. A non-malignant pituitary neoplasm that produces adrenocorticotropic hormone. C3329 Pituitary Gland Adenoma C90259 NICHD Terminology C7463 Acute Myelomonocytic Leukemia Acute Myelomonocytic Leukemia An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001) An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001) C3171 Acute Myeloid Leukemia C90259 NICHD Terminology C7464 Acute Leukemia of Ambiguous Lineage Acute Leukemia of Ambiguous Lineage Acute Leukemia of Indeterminate Lineage An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001) A rare subtype of acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid, or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. These subtypes account for less than 4% of cases of acute leukemia. C3161 Leukemia C90259 NICHD Terminology C74732 Alpha-fetoprotein Measurement Alpha-fetoprotein Measurement Alpha-1-Fetoprotein Measurement The determination of the amount of alpha-fetoprotein present in a sample. C49286 Hematology Test C90259 NICHD Terminology C74742 Hormone Measurement Hormone Measurement The determination of the amount of hormone present in a sample. C25294 Laboratory Procedure C90259 NICHD Terminology C74794 Total Thyroxine Measurement Total Thyroxine Measurement The determination of the amount of free and bound thyroxine present in a sample. C74742 Hormone Measurement C90259 NICHD Terminology C74984 Stickler Syndrome Stickler Syndrome A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities. C3101 Genetic Disorder C90259 NICHD Terminology C74986 Van der Woude Syndrome Van Der Woude Syndrome A rare autosomal dominant syndrome caused by mutations in the IRF6 gene. It is characterized by a cleft palate and/or pits on the lower lip. Other signs and symptoms include absent teeth, palate and tongue deformities. C3101 Genetic Disorder C90259 NICHD Terminology C74988 Holoprosencephaly Holoprosencephaly Holoprosencephaly Sequence A rare disorder characterized by the failure of the forebrain to divide into distinct hemispheres. It is associated with craniofacial abnormalities, developmental abnormalities, and seizures. Incomplete development of the forebrain that may be associated with midfacial anomalies and pituitary hormone deficiencies. C97172 Congenital Nervous System Disorder C90259 NICHD Terminology C75000 Ectrodactyly Ectrodactyly A rare genetic disorder often inherited in an autosomal manner characterized by limb malformations including syndactyly, median clefts of the hands and/or feet, and partial or complete absence of fingers or toes. It may be associated with other skeletal and extraskeletal abnormalities. C3101 Genetic Disorder C90259 NICHD Terminology C75012 Dandy-Walker Malformation Dandy-Walker Syndrome A rare congenital brain malformation disorder characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. C3101 Genetic Disorder C90259 NICHD Terminology C75016 Cornelia De Lange Syndrome Cornelia De Lange Syndrome A rare syndrome characterized by low birth weight, delayed growth, mental retardation, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes. C3101 Genetic Disorder C89330 Developmental Disorder C90259 NICHD Terminology C75018 Treacher Collins Syndrome Treacher Collins Syndrome A rare autosomal dominant syndrome caused by mutations in the TCOF1 gene. Its characteristics include underdevelopment of the facial bones, small jaw and chin, absent or small ears, defects in the middle ear resulting in hearing loss, and downward sloping palpebral fissures. C3101 Genetic Disorder C90259 NICHD Terminology C75019 Sotos Syndrome Sotos Syndrome Cerebral Gigantism Syndrome || Sotos' Syndrome An autosomal dominant overgrowth syndrome caused by mutation(s) of the NSD1 or the NFIX gene, encoding H3 lysine-36 and H4 lysine-20 specific histone-lysine N-methyltransferase, and nuclear factor 1 X-type, respectively. The condition is characterized by a disproportionately large and long head with a slightly prominent forehead and pointed chin, hypertelorism, down-slanting eyes, large hands and feet, overgrowth in childhood, and developmental delay. An autosomal dominant overgrowth syndrome caused by mutation(s) of the NSD1 or the NFIX gene, encoding H3 lysine-36 and H4 lysine-20 specific histone-lysine N-methyltransferase, and nuclear factor 1 X-type, respectively. The condition is characterized by a disproportionately large and long head with a slightly prominent forehead and pointed chin, hypertelorism, down-slanting eyes, large hands and feet, overgrowth in childhood, and developmental delay. C3101 Genetic Disorder C89330 Developmental Disorder C90259 NICHD Terminology C75020 Cleidocranial Dysplasia Cleidocranial Dysostosis Cleidocranial Dysplasia A rare autosomal dominant disorder caused by mutations in the RUNX2 gene. It is characterized by developmental abnormalities in the bones and teeth, including the complete or partial absence of the clavicles, delayed closure of the fontanels, protruding mandible, hypertelorism, scoliosis, and short stature. A rare autosomal dominant condition caused by mutation(s) in the RUNX2 gene, encoding runt-related transcription factor 2. This condition is characterized by developmental abnormalities in the bones and teeth, including the complete or partial absence of the clavicles, delayed closure of the fontanels, protruding mandible, hypertelorism, scoliosis, and short stature. C3101 Genetic Disorder C90259 NICHD Terminology C75034 Type III Acrocephalosyndactyly Saethre-Chotzen Syndrome Acrocephalosyndactyly Type III A rare autosomal dominant syndrome caused by mutations in the TWIST1 gene. It is characterized by premature closure of skull bones resulting in abnormally shaped head, high forehead, hypertelorism, and facial asymmetry. It may be associated with fusion of certain fingers or toes. C89337 Congenital Musculoskeletal Defect C90259 NICHD Terminology C75100 CHARGE Syndrome CHARGE Syndrome Coloboma, Heart Defects, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Anomalies Association || Coloboma, Heart Malformation, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Malformations (CHARGE) Association A rare autosomal dominant syndrome usually caused by mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities. An autosomal dominant syndrome caused by mutation(s) in the CHD7 gene, encoding chromodomain-helicase-DNA-binding protein 7, and characterized by coloboma, cardiac anomalies, choanal atresia, growth and developmental delay, hypogonadotropic hypogonadism, and ear anomalies. C3101 Genetic Disorder C90259 NICHD Terminology C75120 Nail-Patella Syndrome Nail-Patella Syndrome A rare autosomal dominant syndrome caused by mutations in the LMX1B gene. It is characterized by fingernail deformities, absence or hypoplasia of the patellae, iliac horns, deformities of the radial heads, nephropathy, and glaucoma. A rare autosomal dominant syndrome caused by mutations in the LMX1B gene, which is characterized by dysplastic nails, absence or hypoplasia of the patellae, iliac horns, deformities of the radial heads, and nephropathy. C28193 Syndrome C90259 NICHD Terminology C7534 Childhood Visual Pathway Astrocytoma Childhood Visual Pathway Astrocytoma An astrocytoma that arises from the visual pathway and occurs during childhood. An astrocytoma affecting the optic tract that occurs during childhood. C7535 Childhood Visual Pathway Glioma C124275 Childhood Astrocytoma C90259 NICHD Terminology C7535 Childhood Visual Pathway Glioma Childhood Visual Pathway Glioma A glioma affecting the optic tract and occurring in childhood. A glioma affecting the optic tract that occurs during childhood. C7703 Childhood Brain Neoplasm C90259 NICHD Terminology C75387 Human Chorionic Gonadotropin Measurement Human Chorionic Gonadotropin Measurement A laboratory test to detect the amount of human chorionic gonadotropin in a biospecimen. C25294 Laboratory Procedure C90259 NICHD Terminology C7541 Retinoblastoma Retinoblastoma A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. C9305 Cancer C90259 NICHD Terminology C75458 Pallister-Killian Syndrome Pallister-Killian Syndrome A very rare chromosomal disorder caused by tetrasomy of chromosome 12p. It is characterized by severe mental retardation, prominent forehead, sparse temporofrontal hair, hypertelorism, short nose, and streaks of hypopigmented skin. C3101 Genetic Disorder C90259 NICHD Terminology C75462 Angelman Syndrome Angelman Syndrome A genetic syndrome characterized by mental retardation, speech impairment, microcephaly, ataxia, and seizures. The majority of cases result from deletions on the long arm of chromosome 15. A minority of cases result from mutations in the UBE3A gene. C3101 Genetic Disorder C90259 NICHD Terminology C75463 Prader-Willi Syndrome Prader-Willi Syndrome Prader-Labhart-Willi Syndrome || Prader-Willi-Labhart Syndrome A genetic syndrome caused by deletions or disruptions of chromosome 15. It is characterized by reduced fetal activity, mental retardation, hypotonia, short stature, and hypogonadism. A syndrome caused by loss of the paternal copy of the q11-q13 region of chromosome 15 due to deletion, maternal uniparental disomy, or imprinting defects. The condition is characterized by infantile hypotonia, feeding difficulties, and failure to thrive in the first year of life, progressing to hyperphagia and obesity. Other common features include hypopigmentation, distinctive facial features, short stature, small hands and feet, hypogonadism, and neurobehavioral issues. C3101 Genetic Disorder C90259 NICHD Terminology C75464 Polycystic Kidney Disease Polycystic Kidney Disease Fibrocystic Renal Disease A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. An inherited form of kidney disease characterized by multiple renal cysts. C3149 Kidney Disease C90259 NICHD Terminology C75466 Rubinstein-Taybi Syndrome Rubinstein-Taybi Syndrome A rare genetic syndrome mapped to chromosome 16p13.3 and associated with mutations in the CREBBP gene. It is characterized by mental and growth retardation, distinctive facial features (prominent nose, low-set ears, microcephaly, and small mouth), and broad thumbs and great toes. Patients are at an increased risk of developing benign and malignant neoplasms, including nervous system neoplasms and malignant lymphoproliferative disorders. C3101 Genetic Disorder C89330 Developmental Disorder C90259 NICHD Terminology C75479 Hypogonadotropic Hypogonadism with Anosmia Hypogonadotropic Hypogonadism with Anosmia Kallmann Syndrome An X-linked or autosomal dominant genetic syndrome characterized by hypogonadotropic hypogonadism and anosmia. An X-linked or autosomal dominant syndrome due to mutation(s) in a number of genes, including FGFR1 (encoding fibroblast growth factor receptor 1), KAL1 (encoding anosmin-1), PROKR2 (encoding prokineticin receptor-2), CDH7 (encoding chromodomain helicase DNA binding protein 7), and FGF8 (encoding fibroblast growth factor 8). This condition is characterized by an impaired sense of smell and a deficiency of gonadotropin-releasing hormone, resulting in hypogonadotropic hypogonadism. Additional features may include cleft lip or palate, unilateral kidney dysgenesis, and synkinesia. C9227 Hypogonadism C28193 Syndrome C90259 NICHD Terminology C75486 Menkes Disease Menkes Disease Menkes Kinky-Hair Syndrome An X-linked disorder caused by mutations in the ATP7A gene resulting in the abnormal transport and metabolism of copper. It affects primarily male infants. It is characterized by hypotonia, seizures, failure to thrive, and peculiar colorless or steel-colored brittle hair. C97075 Hereditary Connective Tissue Disorder C3101 Genetic Disorder C90259 NICHD Terminology C75488 Rett Syndrome Rett Syndrome A progressive neurologic disorder caused by mutations in the MECP2 gene on chromosome X. It almost exclusively affects girls. It is characterized by language and learning difficulties, poor communication skills, and repetitive hand motions. Other signs and symptoms include microcephaly, scoliosis, breathing abnormalities, and sleep disturbances. C97179 Pervasive Developmental Disorder C90259 NICHD Terminology C75545 Hemolytic Uremic Syndrome Hemolytic Uremic Syndrome HUS || Hemolytic-Uremic Syndrome Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia. Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia. C26323 Hematologic Disorder C90259 NICHD Terminology C75564 Blister Blister An intraepidermal/subepidermal cavity filled with clear, serosanguineous or cloudy fluid. An intraepidermal/subepidermal cavity filled with clear, serosanguineous or turbid fluid. C36281 Integumentary System Finding C90259 NICHD Terminology C75568 Multiple Organ Failure Multi-Organ Failure Complete impairment of two or more organs or organ systems. Complete impairment of two or more organs or organ systems. C100104 Sign or Symptom C90259 NICHD Terminology C7600 Acute Myeloid Leukemia with Myelodysplasia-Related Changes Acute Myeloid Leukemia with Myelodysplasia-Related Changes AML with Myelodysplasia-Related Changes An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood, and either a previous history of myelodysplastic syndrome, multilineage dysplasia or myelodysplastic syndrome-related cytogenetic abnormalities. There is no history of prior cytotoxic therapy for an unrelated disorder, and there is absence of the cytogenetic abnormalities that are present in acute myeloid leukemia with recurrent genetic abnormalities. An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood and one of the following: a previous history of myelodysplastic syndrome; multilineage dysplasia; or myelodysplastic syndrome-related cytogenetic abnormalities. C3171 Acute Myeloid Leukemia C90259 NICHD Terminology C76130 First-Degree Burn First Degree Burn A painful injury to the epidermis due to chemical, friction, radiation or thermal exposure. The affected area appears red and blanches when touched. A burn that involves the epidermis characterized by skin redness. C34441 Burn C90259 NICHD Terminology C76131 Second-Degree Burn Second Degree Burn An injury that includes the entire epidermis and upper layers of the dermis due to a chemical, friction, radiation or thermal exposure. The affected area appears as moist red or white skin that does not blanch. Often it is painful with the presence of blisters. A burn that involves the full thickness of the epidermis characterized by blisters. C34441 Burn C90259 NICHD Terminology C76132 Third-Degree Burn Third Degree Burn An injury that includes all skin layers into the subcutaneous tissue due to chemical, friction, radiation or thermal exposure. The affected area appears dry and thickened; damage to nerve endings usually renders the wound painless. A burn that involves the full thickness of the epidermis and dermis characterized by exposure of subcutaneous tissues. C36281 Integumentary System Finding C90259 NICHD Terminology C7616 Childhood Diffuse Large B-Cell Lymphoma Childhood Diffuse Large B-Cell Lymphoma Childhood DLBCL A diffuse large B-cell lymphoma that occurs during childhood. A diffuse large B-cell lymphoma that occurs during childhood. C7706 Childhood Non-Hodgkin Lymphoma C90259 NICHD Terminology C76205 Bordetella pertussis Bordetella pertussis A species of bacteria within the phylum Proteobacteria consisting of gram-negative aerobic coccobacillus that are the causative agent of pertussis. C14187 Bacteria C90259 NICHD Terminology C76325 Birth Weight Birth Weight The first weight of a newborn obtained after birth. A measured weight of a newborn obtained immediately or shortly after birth. C81328 Body Weight C90259 NICHD Terminology C7703 Childhood Brain Neoplasm Childhood Brain Neoplasm A benign or malignant, primary or metastatic neoplasm of the brain occurring in children. A benign or malignant, primary or metastatic neoplasm of the brain, occurring in children. C35876 Childhood Intracranial Neoplasm C90259 NICHD Terminology C7705 Childhood Rhabdomyosarcoma Childhood Rhabdomyosarcoma An aggressive malignant mesenchymal neoplasm arising from skeletal muscle in children. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. An aggressive, malignant, mesenchymal neoplasm arising from skeletal muscle in children; the most common sites are the head, the genitourinary tract, and the extremities. C3359 Rhabdomyosarcoma C7715 Childhood Soft Tissue Sarcoma C90259 NICHD Terminology C7706 Childhood Non-Hodgkin Lymphoma Childhood Non-Hodgkin Lymphoma Childhood NHL Non-Hodgkin lymphoma occurring in childhood. A high-grade lymphoma occurring in children of either B, T, or NK cell lineage, with either precursor or mature cell phenotype. C5165 Childhood Lymphoma C90259 NICHD Terminology C7708 Childhood Malignant Liver Neoplasm Childhood Malignant Liver Tumor Childhood Malignant Liver Neoplasm A malignant neoplasm of the liver developed in childhood. Representative examples include hepatoblastoma, undifferentiated (embryonal) sarcoma, and extrarenal rhabdoid tumor. A malignant tumor of the liver occurring during childhood. C34803 Primary Malignant Liver Neoplasm C90259 NICHD Terminology C7714 Childhood Hodgkin Lymphoma Childhood Hodgkin Lymphoma Hodgkin lymphoma occurring in childhood. A lymphoma arising from germinal center B cells, which is characterized by multinucleated giant cells (Reed-Sternberg cells) in a background of inflammatory cells. C5165 Childhood Lymphoma C90259 NICHD Terminology C7715 Childhood Soft Tissue Sarcoma Childhood Soft Tissue Sarcoma Soft tissue sarcoma occurring in childhood. A heterogeneous group of malignant tumors in childhood that originate from primitive mesenchymal tissue. C9306 Soft Tissue Sarcoma C90259 NICHD Terminology C77199 Rotavirus Rotavirus A genus of double stranded RNA viruses that carry 11 unique double helix molecules of RNA that encode one or two proteins each. The RNA is surrounded by a three-layered icosahedral protein capsid. Viral particles are up to 76.5 nm in diameter and are not enveloped. C14283 Virus C90259 NICHD Terminology C77201 Histoplasmosis Histoplasmosis A disease caused by the fungus Histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated. An often self-limited infection that is caused by Histoplasma capsulatum, which typically manifests as a flu-like illness, but severe disseminated disease can occur. C3245 Fungal Infection C90259 NICHD Terminology C77212 Zygomycosis Mucormycosis Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue. Any infection due to a fungus of the order Mucorales. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, or skin; the infection can also be disseminated. C3245 Fungal Infection C90259 NICHD Terminology C77606 Unit per Gram Unit per Gram An arbitrary unit of substance content expressed in unit(s) per gram. C25709 Unit of Measure C90259 NICHD Terminology C77799 Varicella-Zoster Virus Strain Oka/Merck Live Antigen Varicella Vaccine Chickenpox Vaccine || Shingles Vaccine A sterile, lyophilized preparation of the Oka/Merck strain of the live, attenuated varicella-zoster virus (VZV), that can be used to prevent varicella, commonly known as chickenpox, or herpes zoster (HZ), commonly known as shingles. Upon reconstitution and subcutaneous vaccination with the VZV strain Oka/Merck live antigen, this vaccine induces antigen-specific T-cell and B-cell immune responses against the VZV, thereby protecting against VZV infection. C1920 Attenuated Live Virus Vaccine C90259 NICHD Terminology C77963 Crying Crying The shedding of tears associated with emotions, usually sadness but also joy or frustration. The shedding of tears associated with emotions, usually sadness, but also joy or frustration. C100104 Sign or Symptom C90259 NICHD Terminology C7816 Childhood Craniopharyngioma Childhood Craniopharyngioma A craniopharyngioma that occurs during childhood. The vast majority of cases are adamantinomatous craniopharyngiomas. Clinical signs and symptoms include endocrine deficiencies and visual disturbances. A craniopharyngioma that occurs during childhood. The vast majority of cases are adamantinomatous craniopharyngiomas. Clinical signs and symptoms include endocrine deficiencies and visual disturbances. C35876 Childhood Intracranial Neoplasm C90259 NICHD Terminology C78161 Abdominal Distention Abdominal Distention Abdominal Bloating Swelling of the abdomen resulting from excessive food intake, malnutrition, liver disease, primary abdominal tumors, and tumors metastatic to the abdominal cavity. Protrusion of the abdomen. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C78163 Akathisia Akathisia An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications. An uncomfortable feeling of physical restlessness associated with the urge to move. C87124 Central Nervous System Signs and Symptoms C90259 NICHD Terminology C78208 Bladder Perforation Bladder Perforation A rupture in the bladder wall due to traumatic or pathologic processes. A rupture in the bladder wall. C2900 Bladder Disorder C90259 NICHD Terminology C78223 Breast Pain Breast Pain Painful sensation in the breast region. Pain localized to the breast. C3303 Pain C90259 NICHD Terminology C78238 Chest Wall Pain Musculoskeletal Chest Pain Painful sensation in the chest wall region. Pain that originates in the bones, muscles, tendons, or ligaments in the chest. C3303 Pain C90259 NICHD Terminology C78239 Colonic Fistula Colonic Fistula Large Bowel Fistula An abnormal communication between the large intestine and another organ or cavity. C34732 Intestinal Fistula C90259 NICHD Terminology C78243 Colonic Stenosis Colonic Stenosis Narrowing of the lumen of colon. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C78245 Cardiac Conduction Disorder Cardiac Conduction Disorder Disorder of Cardiac Conduction A disorder affecting the conduction system that sends electrical signals in the myocardium. C3079 Heart Disorder C90259 NICHD Terminology C78249 Increased Creatinine Increased Creatinine Elevated Creatinine A laboratory test result demonstrating an increased concentration of creatinine in a biological specimen. A laboratory test result demonstrating an increased concentration of creatinine in a biological specimen. C36292 Laboratory Test Result C90259 NICHD Terminology C78251 Cytokine Release Syndrome Cytokine Release Syndrome A syndrome that occurs after therapeutic infusion of antibodies into the blood and is characterized by nausea, headache, tachycardia, hypotension, rash, and shortness of breath. It is caused by the release of cytokines from the cells that are targeted by the antibodies. Most patients experience a mild to moderate reaction; however, the reaction may be severe and life-threatening. A systemic inflammatory reaction caused by the release of an excessive amount of cytokines into the circulation by activated T-cells. C3507 Immune System Disorder C90259 NICHD Terminology C78253 Depressed Level Of Consciousness Depressed Level Of Consciousness A neurologic state characterized by decreased ability to perceive and respond. A neurologic state characterized by decreased ability to perceive and respond. C100104 Sign or Symptom C90259 NICHD Terminology C78254 Device Complication Device Complication Any problem arising from the use of a medical device. Any problem arising from the use of a medical device. C2959 Complication C90259 NICHD Terminology C78260 Duodenal Stenosis Duodenal Stenosis Narrowing of the lumen of the duodenum. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C78262 Edema Limbs Peripheral Edema Swelling due to an excessive accumulation of fluid in the upper or lower extremities. Accumulation of an excessive amount of fluid in cells or intercellular tissues of the limbs. C100104 Sign or Symptom C90259 NICHD Terminology C78264 Ejaculation Disorder Ejaculatory Dysfunction A disorder referring to problems related to ejaculation. This category includes premature, delayed, retrograde, and painful ejaculation. Any disturbance in the ejection of semen, which causes distress to the affected individual. C27019 Male Reproductive System Disorder C90259 NICHD Terminology C78265 Infective Endocarditis Infective Endocarditis An infectious process involving the endocardial layer of the heart. Endocarditis that is caused by an infectious agent. C34582 Endocarditis C26726 Infectious Disorder C90259 NICHD Terminology C78267 Delayed Epiphyseal Fusion Delayed Epiphyseal Fusion Abnormally late fusion of the bone growth plate. Abnormally late fusion of the bone growth plate. C89330 Developmental Disorder C90259 NICHD Terminology C78268 Premature Epiphyseal Fusion Premature Epiphyseal Fusion Abnormally early fusion of the bone growth plate. Abnormally early fusion of the bone growth plate. C89330 Developmental Disorder C90259 NICHD Terminology C78302 Flu-Like Symptoms Flu-Like Symptoms Influenza-Like Illness Complaints describing a pattern similar to influenza, which may include one or more of the following symptoms: fever, chills, muscle or body aches, cough, sore throat, rhinitis, or fatigue. Complaints describing a pattern similar to influenza, which may include one or more of the following symptoms: fever, chills, muscle or body aches, cough, sore throat, rhinitis, or fatigue. C100104 Sign or Symptom C90259 NICHD Terminology C78319 Digestive System Fistula Gastrointestinal Fistula An abnormal communication between any part of the digestive system and another organ or cavity. C3045 Fistula C2990 Gastrointestinal Disorder C90259 NICHD Terminology C78342 Reflex Reflex Reflex Finding || Reflex Observable An automatic instinctive unlearned reaction to a stimulus. C36280 Nervous System Finding C90259 NICHD Terminology C78345 Hyperhidrosis Hyperhidrosis Excessive perspiration. Excessive sweating . C36281 Integumentary System Finding C90259 NICHD Terminology C78346 Hypersomnia Hypersomnia A sleep disorder characterized by excessive sleepiness. Excessive or prolonged sleep. C3376 Sleep Disorder C100104 Sign or Symptom C90259 NICHD Terminology C78349 Hypomania Hypomanic Mood A less severe form of mania characterized by elevated mood, hyperactivity, and grandiosity. In contrast to mania, these symptoms do not cause significant impairment of the individual's productivity at work, or social and family relationships. An emotional state characterized by mild to moderate elevation of mood without relevant effect on functioning. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C78350 Hypoparathyroidism Hypoparathyroidism An endocrine disorder characterized by decreased production of parathyroid hormone by the parathyroid glands. It is usually caused by damage of the parathyroid glands during head and neck surgery. Signs and symptoms include muscle cramps, abdominal pain, dry skin, brittle nails, cataracts, tetany, and convulsions. Decreased production or secretion of parathyroid hormone by the parathyroid gland, resulting in hypocalcemia due to decreased release of calcium and phosphate from bone matrix, decreased renal calcium reabsorption, and decreased renal production of 1,25-dihydroxyvitamin D-3, which decreases intestinal absorption of calcium. Hypoparathyroidism is also associated with hyperphosphatemia as a result of hypophosphaturia. C3009 Endocrine System Disorder C90259 NICHD Terminology C78351 Hypothermia Hypothermia Abnormally low body temperature. Abnormally low body temperature. C100104 Sign or Symptom C90259 NICHD Terminology C78355 Ileal Perforation Ileal Perforation Perforation of Ileum A rupture in the ileal wall due to traumatic or a pathologic processes. C39611 Intestinal Perforation C90259 NICHD Terminology C78366 INR Increased INR Increased Elevated Prothrombin Time International Normalized Ratio || Supratherapeutic International Normalized Ratio A laboratory test result demonstrating an increased ratio of the patient's prothrombin time to a control sample. A laboratory test result demonstrating an increased ratio of the patient's prothrombin time to a control sample. C36292 Laboratory Test Result C90259 NICHD Terminology C78393 Iron Overload Iron Overload Accumulation of iron in the tissues. It may be a manifestation of an inherited disorder (e.g., hemochromatosis) or acquired (in patients with repeated blood transfusions). Symptoms include hepatomegaly, arthritis, diabetes mellitus, and bronzed skin. If untreated it has a progressive course and may lead to death. Abnormally high level of iron in the tissues. C36292 Laboratory Test Result C90259 NICHD Terminology C78416 Lethargy Lethargy Listless Decreased consciousness characterized by mental and physical inertness. A profound lack of mental and physical energy. C100104 Sign or Symptom C90259 NICHD Terminology C78432 Decreased Libido Decreased Libido Decreased sexual desire. A decrease in overall desire for sexual activity. C100104 Sign or Symptom C90259 NICHD Terminology C78433 Increased Libido Increased Libido Increased sexual desire. An increase in overall desire for sexual activity. C100104 Sign or Symptom C90259 NICHD Terminology C78435 Hyperlipasemia Hyperlipasemia Elevated Lipase A laboratory test result which indicates increased levels of lipase in a biologic specimen. Abnormally high level of lipase in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C78492 Nail Discoloration Pigmentary Change of Nails Chromonychia A change in the color of the nail. Abnormal changes in nail color. C36281 Integumentary System Finding C90259 NICHD Terminology C78497 Urinary Incontinence Urinary Incontinence Enuresis Involuntary passage of urine outside the body. Involuntary passage of urine outside the body. C123162 Voiding Disorders C90259 NICHD Terminology C78498 Fecal Incontinence Fecal Incontinence Involuntary passage of stool from the rectum. Involuntary passage of stool from the rectum. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C78500 Nasal Congestion Nasal Congestion The blockage of the nasal passage due to mucosal edema. It is usually the result of a viral infection or an allergic reaction. The blockage of the nasal passage due to mucosal edema or secretions. C100104 Sign or Symptom C90259 NICHD Terminology C78566 Post-Nasal Drip Postnasal Drip Excessive mucous secretion in the back of the nasal cavity or throat, causing sore throat and/or coughing. It is usually due to allergic rhinitis or a cold. Excessive mucous secretion from the nose draining into the oropharynx. C45233 Respiratory System Finding C90259 NICHD Terminology C78569 Productive Cough Productive Cough A cough accompanied by expectorated secretions. A cough accompanied by expectorated secretions. C100104 Sign or Symptom C90259 NICHD Terminology C78570 Intestinal Stoma Prolapse Enterostomy Prolapse An intestinal stoma complication characterized by protrusion of the intestine above the abdominal surface. Protrusion of the intestine through the stoma opening. C36173 Prolapse C90259 NICHD Terminology C78576 Psychosis Psychosis A mental disorder characterized by personality change, impaired functioning, and loss of touch with reality. A mental state characterized by impaired reality which may include perceptual disturbances, abnormal beliefs and disorganized thinking. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C78578 Pulmonary Hemorrhage Pulmonary Hemorrhage Bleeding from the lung parenchyma. C26791 Hemorrhage C90259 NICHD Terminology C78580 Radiation-Recall Dermatitis Radiation Recall Dermatitis Acute skin inflammatory reaction caused by drugs, especially chemotherapeutic agents, weeks or months following radiotherapy. The inflammatory reaction is confined to the previously irradiated skin and the symptoms disappear after the removal of the pharmacologic agent. Skin inflammatory reaction caused by drugs, during the weeks or months following radiotherapy. The inflammatory reaction is confined to the previously irradiated skin and the symptoms disappear after the removal of the pharmacologic agent. C3371 Skin Disorder C90259 NICHD Terminology C78581 Radiculitis Radiculitis An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path. Inflammation of the nerve root. C27580 Peripheral Nervous System Disorder C90259 NICHD Terminology C78582 Pustular Lesion Pustule Pustular Lesion A circumscribed and elevated skin lesion filled with purulent material. A small circumscribed and elevated skin lesion filled with purulent material. C36281 Integumentary System Finding C90259 NICHD Terminology C78589 Rectal Stenosis Rectal Stenosis Narrowing of the rectal lumen. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C78592 Recurrent Laryngeal Nerve Paralysis Recurrent Laryngeal Nerve Palsy Recurrent Laryngeal Nerve Paralysis || Vagus Nerve Laryngeal Paralysis Paralysis of the recurrent laryngeal nerve. Causes include surgical and non-surgical traumas, neoplasms (e.g., lung carcinoma), and inflammatory neuritis. Paralysis of the recurrent laryngeal nerve. C26733 Cranial Nerve Disorder C103171 Recurrent Laryngeal Nerve Injury C90259 NICHD Terminology C78593 Renal Colic Renal Colic Paroxysmal and severe flank pain radiating to the inguinal area. It is caused by the passage of a kidney stone through the ureter. Paroxysmal and severe flank or abdominal pain that is associated with obstruction of urine flow. C100104 Sign or Symptom C90259 NICHD Terminology C78597 APL Differentiation Syndrome Retinoic Acid Syndrome Differentiation Syndrome A syndrome observed in patients with acute promyelocytic leukemia treated with all-trans retinoic acid. It is characterized by weight gain, dyspnea, pleural and pericardial effusions, leukocytosis, and renal failure. A disorder manifesting with fever, leukocytosis, hypotension, and possible cardiac and renal failure as a result of treatment with all-trans retinoic acid or arsenic trioxide. C9229 Systemic Disorder C90259 NICHD Terminology C78598 Reversible Posterior Leukoencephalopathy Syndrome Posterior Reversible Encephalopathy Syndrome PRES || Reversible Occipital Parietal Encephalopathy || Reversible Posterior Cerebral Edema Syndrome || Reversible Posterior Leukoencephalopathy Syndrome An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment. A neurotoxic state associated with posterior cerebral edema and variable neurological symptoms, typically including seizures, visual disturbance, mental status changes and/or headache. C26920 Encephalopathy C90259 NICHD Terminology C78599 Infectious Rhinitis Infectious Rhinitis Non-Allergic Rhinitis An inflammatory process affecting the nasal mucosa, usually caused by viruses (e.g., rhinovirus, adenovirus, parainfluenza virus, and coronavirus). It is characterized by chills, headaches, mucopurulent nasal discharge, coughing, and facial pain. Inflammation of the mucous membrane lining the nose due to infection. C26726 Infectious Disorder C90259 NICHD Terminology C78603 Scoliosis Scoliosis A congenital or acquired spinal deformity characterized by lateral curvature of the spine. A congenital or acquired spinal deformity characterized by lateral curvature of the spine. C99064 Spinal Deformity C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C78610 Skin Hypopigmentation Hypopigmentation Pigment Dilution Abnormal lightening of skin due to decreased melanin production or deposition. Vitiligo, albinism, and leukoderma are among the disorders that are associated with skin hypopigmentation. A condition characterized by an abnormal loss of color to the skin due to the depletion of melanocytes or melanin. C36281 Integumentary System Finding C90259 NICHD Terminology C78632 Stridor Stridor A symptom resulting from laryngeal obstruction. It is characterized by a high pitched breathing sound. A high-pitched breath sound secondary to obstruction and turbulent air flow at the level of the larynx. C100104 Sign or Symptom C90259 NICHD Terminology C78634 Superficial Thrombophlebitis Superficial Thrombophlebitis Thrombosis and inflammation of a superficial vein of the extremities. Symptoms include red discoloration and warmth of the skin and pain along the affected vein. Thrombosis and inflammation of a superficial vein of the extremities. C3410 Thrombophlebitis C90259 NICHD Terminology C78639 Tooth Infection Tooth Infection An infectious process affecting a tooth. An infectious process affecting a tooth. C26726 Infectious Disorder C90259 NICHD Terminology C78643 Tracheitis Tracheitis An inflammatory process affecting the wall of the trachea. Inflammation of the trachea. C35079 Tracheal Disorder C90259 NICHD Terminology C78646 Tracheal Stenosis Tracheal Stenosis Narrowing of the lumen of the trachea. C35079 Tracheal Disorder C90259 NICHD Terminology C78652 Pediatric Quality of Life Inventory Pediatric Quality of Life Inventory PedsQL A parent report or patient self report for measuring health-related quality of life (HRQOL) in healthy children and adolescents and those with acute and chronic health conditions. The PedsQL Measurement Model uses a modular approach that integrates both generic core scales and disease-specific modules into one measurement system. (Copyright 1998-2008 James W. Varni, Ph.D.) A copyrighted measurement model that integrates both generic core scales and disease-specific modules to assess health-related quality of life for healthy children and those with acute and chronic conditions. C20993 Clinical Assessment Tool C90259 NICHD Terminology C78661 Ureteral Stricture Ureteral Stricture Narrowing of the lumen of the ureter. A narrowing of the ureteral lumen, from disease or dysplasia, involving part or all layers of the ureteral wall. C79476 Urinary Tract Stenosis C90259 NICHD Terminology C78662 Ureteric Anastomotic Leakage Ureteral Anastomotic Leak Leakage due to breakdown of a ureteral anastomosis. Urinary leak specific to a reimplanted ureter. C2959 Complication C90259 NICHD Terminology C78665 Ureteric Perforation Ureteral Perforation A rupture in the wall of the ureter due to traumatic or pathologic processes. A rupture in the ureter. C36286 Urinary System Finding C90259 NICHD Terminology C78666 Ureteritis Ureteritis An acute or chronic inflammatory process affecting the ureter. Inflammation of the ureter. C27148 Ureter Disorder C90259 NICHD Terminology C78717 Watering Eyes Watering Eyes Tearing eyes; a condition caused either by tear overproduction or impaired drainage of the tear duct. Causes of tear overproduction include eye irritation (e.g., eye infection, foreign body in the eye), headache, pain reaction, allergies, sinusitis, and injury to the eye. Overflow of tears from the eye. C99208 Eye Finding C100104 Sign or Symptom C90259 NICHD Terminology C78718 Wheezing Wheezing A symptom and a finding during physical examination, characterized by a high-pitched, whistling sound during breathing. It results from the narrowing or obstruction of the respiratory airways. The most common causes of wheezing are asthma, chronic obstructive pulmonary disease, tracheobronchitis, and pulmonary edema. A high-pitched breath sound resulting from a narrowing or obstruction of the small airways. C100104 Sign or Symptom C90259 NICHD Terminology C78727 Normal Reference Range Normal Reference Range Reported values within the typical or expected range. C38013 Range C90259 NICHD Terminology C78743 Meconium Meconium The newborn's first intestinal discharge. It is a dark-green, thick substance composed of mucus, intestinal secretions, hair, and intestinal mucosa cells. C13236 Body Fluid or Substance C90259 NICHD Terminology C78787 Purpura Purpura A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color. Small blood vessel hemorrhage into the skin and/or mucous membranes presenting as red or purplish patches. C36281 Integumentary System Finding C90259 NICHD Terminology C78797 Thrombotic Thrombocytopenic Purpura Thrombotic Thrombocytopenic Purpura TTP A coagulation disorder characterized by extensive formation of thrombi in small blood vessels throughout the body due to low levels of ADAMTS13 protein, and resulting in consumption of circulating platelets, which is characterized by thrombocytopenia, anemia, neurologic changes, and sometimes fever and renal dysfunction. A coagulation disorder characterized by extensive formation of thrombi in small blood vessels throughout the body due to low levels of ADAMTS13 protein, and resulting in consumption of circulating platelets, which is characterized by thrombocytopenia, anemia, neurologic changes, and sometimes fever and renal dysfunction. C78787 Purpura C62605 Thrombotic Microangiopathy C90259 NICHD Terminology C7928 Childhood Germ Cell Tumor Childhood Germ Cell Tumor A germ cell tumor that occurs during childhood. A germ cell tumor that occurs during childhood. C3708 Germ Cell Tumor C90259 NICHD Terminology C7940 Childhood Acute Monoblastic and Monocytic Leukemia Childhood Acute Monoblastic and Monocytic Leukemia An acute monoblastic and monocytic leukemia occurring in children. An acute monoblastic and monocytic leukemia occurring during childhood. C7318 Acute Monoblastic and Monocytic Leukemia C90259 NICHD Terminology C79470 Digestive System Perforation Gastrointestinal Perforation A rupture in the wall of any structure of the digestive system caused by traumatic or pathologic processes. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C79476 Urinary Tract Stenosis Urinary Tract Stenosis Urinary Tract Stricture An intrinsic narrowing of a lumen of the urinary tract. An intrinsic narrowing of a lumen of the urinary tract. C36286 Urinary System Finding C90259 NICHD Terminology C79484 Stevens-Johnson Syndrome Stevens Johnson Syndrome Erythema Multiforme Major A systemic, serious, and life-threatening disorder characterized by lesions in the skin and mucous membranes that may lead to necrosis. The lesions may appear anywhere in the body but they occur more commonly in the palms, soles, dorsum of the hands, and extensor surfaces. The lesions are vesicular or necrotic in the center, surrounded by an erythematous zone and occupy less than 10% of the body surfaces. The appearance of the mucocutaneous lesions is preceded by an upper respiratory tract infection. It is an immune complex hypersensitivity reaction usually caused by drugs (e.g., sulfa, phenytoin, penicillin), viruses (e.g., herpes simplex, influenza, hepatitis), and malignancies (e.g., carcinoma and lymphoma). Drug or microbial induced exanthem characterized by papular or target-like lesions that involve less than 30% of the skin surface and at least two mucous membranes associated with systemic symptoms and may result in variable areas of skin necrosis. C3371 Skin Disorder C90259 NICHD Terminology C7952 Childhood Burkitt Leukemia Childhood Burkitt Leukemia The leukemic counterpart of Burkitt lymphoma occurring in children. The characteristic Burkitt cells are seen in the bone marrow and the peripheral blood. This is an aggressive leukemia. A mature B cell leukemia that is the leukemic counterpart of Burkitt lymphoma occurring in children. C4989 Childhood Leukemia C90259 NICHD Terminology C7953 Childhood T Acute Lymphoblastic Leukemia Childhood T Acute Lymphoblastic Leukemia Childhood T-ALL An acute lymphoblastic leukemia of T-cell origin occurring in children. An acute T-lymphoblastic leukemia occurring during childhood. C3183 T Acute Lymphoblastic Leukemia C3168 Childhood Acute Lymphoblastic Leukemia C90259 NICHD Terminology C79530 Agitation Agitation A state of restlessness associated with unpleasant feelings of irritability and tension. Causes include pain, stress, fever, alcohol and nicotine withdrawal, cocaine and hallucinogenic drugs use, depression, bipolar disorders, and schizophrenia. Irritability associated with physical and psychological restlessness. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C79532 Allergic Rhinitis Allergic Rhinitis Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life. Inflammation of the mucous membrane lining the nose due to allergy. C114476 Allergic Reaction C90259 NICHD Terminology C79539 Aphonia Aphonia A term referring to the inability to speak. It may result from injuries to the vocal cords or may be functional (psychogenic). The inability to produce speech sounds. C100104 Sign or Symptom C90259 NICHD Terminology C79541 Bladder Obstruction Bladder Outlet Obstruction Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra. An impediment of urine flow at the outlet of the bladder. C2900 Bladder Disorder C90259 NICHD Terminology C79545 Cheilitis Cheilitis An inflammatory process affecting the lip. Inflammation of the lips characterized by redness, fissures or crusts. C3371 Skin Disorder C90259 NICHD Terminology C79546 Chylothorax Chylothorax A milky pleural effusion resulting from accumulation of lymph fluid in the pleural cavity. Causes include malignancies (usually lymphoma), trauma to the thoracic duct, tuberculosis, sarcoidosis, and congenital causes. A pleural effusion resulting from the accumulation of lymph in the pleural cavity. C3331 Pleural Effusion C90259 NICHD Terminology C7955 Childhood Hepatocellular Carcinoma Childhood Hepatocellular Carcinoma A hepatocellular carcinoma occurring in children. A malignant tumor that arises from hepatocytes in children. It is associated with perinatally-acquired Hepatitis B virus. Cells are epithelial in appearance and typically arise in the right lobe of the liver. C7708 Childhood Malignant Liver Tumor C90259 NICHD Terminology C79550 Infectious Encephalitis Infectious Encephalitis An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi. Inflammation of the brain that is caused by an infectious agent. C26760 Encephalitis C26726 Infectious Disorder C90259 NICHD Terminology C79552 Enophthalmos Enophthalmos Abnormal recession of the eyeball within the eye socket. The posterior displacement of the eye within the orbit. C99208 Eye Finding C90259 NICHD Terminology C7957 Childhood Embryonal Rhabdomyosarcoma Childhood Embryonal Rhabdomyosarcoma A poorly circumscribed morphologic variant of rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of primitive skeletal muscle in any stage of myogenesis. A poorly circumscribed morphologic variant of rhabdomyosarcoma that generally arises in the head and neck region or in the genitourinary tract. C7705 Childhood Rhabdomyosarcoma C90259 NICHD Terminology C79573 Enterocolitis Enterocolitis An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use. Inflammation of the small and large intestines. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C79574 Esophageal Fistula Esophageal Fistula An abnormal communication between the esophagus and another organ or anatomic site. C78319 Gastrointestinal Fistula C90259 NICHD Terminology C7958 Childhood Alveolar Rhabdomyosarcoma Childhood Alveolar Rhabdomyosarcoma An aggressive malignant mesenchymal neoplasm occurring in children. It is characterized by the presence of round cells with myoblastic differentiation, and a fibrovascular stroma resembling an alveolar growth pattern. A histologic subset of rhabdomyosarcoma consisting of a malignant mesenchymal neoplasm occurring in children. It is characterized by the presence of round cells with myoblastic differentiation, and a fibrovascular stroma resembling an alveolar growth pattern. C7705 Childhood Rhabdomyosarcoma C90259 NICHD Terminology C7959 Childhood Pleomorphic Rhabdomyosarcoma Childhood Pleomorphic Rhabdomyosarcoma Childhood Anaplastic Rhabdomyosarcoma A rare aggressive rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. A pleomorphic rhabdomyosarcoma occurring in children. C7705 Childhood Rhabdomyosarcoma C90259 NICHD Terminology C79597 Hypertrichosis Hypertrichosis Excessive hair growth anywhere on the body. Excessive hair growth anywhere on the body. C36281 Integumentary System Finding C90259 NICHD Terminology C79598 Infectious Meningitis Infectious Meningitis Infective Meningitis Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures. C26828 Meningitis C90259 NICHD Terminology C79601 Otitis Externa Otitis Externa External Otitis Inflammation of the anatomical structures of the outer ear and ear canal, which is most often caused by an infectious process. Symptoms include erythema, edema, and pain. Inflammation of the outer ear and/or ear canal. C118420 Otolaryngologic Disorder C90259 NICHD Terminology C79603 Joint Stiffness Joint Stiffness A sensation of discomfort and tightness while moving a joint. Typically there is decreased joint range of motion. Causes include arthritis, joint overuse, joint injury, and the aging process. A feeling of tension or tightness in one or more joints. C100104 Sign or Symptom C90259 NICHD Terminology C79608 Laryngeal Stenosis Laryngeal Stenosis Narrowing of the laryngeal airway. Laryngeal stenosis is a congenital or acquired narrowing of the upper airway that results in difficulty breathing. C26871 Respiratory System Disorder C90259 NICHD Terminology C79609 Laryngospasm Laryngospasm Paroxysmal spasmodic muscular contraction of the vocal cords. It is brief, usually lasting for less than one minute, interrupting the speech and breathing and may produce a high-pitched breathing sound. It may occur under anesthesia or may be associated with gastroesophageal reflex disease. The involuntary adduction of the vocal cords resulting in airway obstruction on inspiration. C45233 Respiratory System Finding C90259 NICHD Terminology C7968 Childhood Acute Promyelocytic Leukemia with PML-RARA Childhood Acute Promyelocytic Leukemia with t(15;17)(q22;q12); PML-RARA Childhood APL || Childhood APL with t(15;17)(q22;q12); PML-RARA || Childhood APML || Childhood APML with t(15;17)(q22;q12); PML-RARA An acute promyelocytic leukemia with PML-RARA fusion occurring in children. An acute promyelocytic leukemia occurring in children. C9160 Childhood Acute Myeloid Leukemia C90259 NICHD Terminology C79694 Meningismus Meningismus The symptoms of neck stiffness, headache, and photophobia resulting from meningeal irritation. Causes include subarachnoid hemorrhage and acute febrile diseases. The symptoms of neck stiffness, headache, and photophobia resulting from meningeal irritation. C87124 Central Nervous System Signs and Symptoms C90259 NICHD Terminology C79695 Neuralgia Neuralgia Intense painful sensation along a nerve or group of nerves. It is caused by irritation or trauma to a nerve or inflammation of a nerve. Intense painful sensation along a nerve or group of nerves. C3303 Pain C90259 NICHD Terminology C79696 Neurogenic Bladder Neurogenic Bladder Malfunctioning urinary bladder due to central nervous system disorders or damage to the peripheral nerves that are involved in the control of urination. Causes include spinal cord injuries, neural tube defects, brain tumors, strokes, and peripheral neuropathies (e.g., AIDS neuropathy and diabetic neuropathy). A dysfunctional bladder caused by neurologic disease. C36286 Urinary System Finding C90259 NICHD Terminology C7970 Childhood Acute Myelomonocytic Leukemia Childhood Acute Myelomonocytic Leukemia An acute myelomonocytic leukemia occurring in children. An acute myelomonocytic leukemia occurring in children. This type corresponds to M4 in the FAB classification. C7463 Acute Myelomonocytic Leukemia C90259 NICHD Terminology C79702 Paronychia Paronychia An acute or chronic infection of the soft tissues around the nail. Symptoms include pain, tenderness, erythema, and swelling around the nail. Acute infection results from minor trauma to the fingertip and Staphylococcus aureus is usually the causative agent. Chronic infection is usually caused by Candida albicans. An acute (usually bacterial) or chronic (usually fungal) infection of the soft tissue around the nail. C36281 Integumentary System Finding C90259 NICHD Terminology C79704 Precocious Puberty Precocious Puberty Unusually early sexual maturity. Onset and progression of breast development before the age of 8 years in girls and testicular enlargement before the age of 9 years in boys. C36285 Endocrine System Finding C90259 NICHD Terminology C79718 Serum Sickness Serum Sickness Delayed-type hypersensitivity reaction to foreign proteins derived from an animal serum. It occurs approximately six to twenty one days following the administration of the foreign antigen. Symptoms include fever, arthralgias, myalgias, skin eruptions, lymphadenopathy, chest pain, and dyspnea. Certain drugs (e.g., antibiotics, anticancer agents, and anti-inflammatory medications) and infectious disorders (e.g., hepatitis B) may also cause serum sickness-like reaction. A systemic, immune complex mediated hypersensitivity reaction to injected foreign or autologous protein that usually presents four to ten days after exposure and resolves on its own. Manifestations may include fever, joint pain, rash, and swollen lymph nodes. C3114 Hypersensitivity Reaction C90259 NICHD Terminology C7972 Childhood Acute Megakaryoblastic Leukemia Childhood Acute Megakaryoblastic Leukemia Childhood AMKL An acute megakaryoblastic leukemia occurring in children. A subtype of acute myeloid leukemia involving the megakaryocytic line. The majority of the cases are associated with t(1;22)(p13;q13). The following recurrent genetic abnormalities have been reported with pediatric AMKL: NUP98/JARID1A, RBM15/MKL, and CBFA2T3/GLIS2. GATA1 mutations are not observed in non-Trisomy 21 (Down syndrome) children with AMKL. C3170 Acute Megakaryoblastic Leukemia C9160 Childhood Acute Myeloid Leukemia C90259 NICHD Terminology C79731 Skin Hyperpigmentation Hyperpigmentation Darkening of the skin due to excessive melanin deposition. Causes include skin injuries, pregnancy, eczema, and Addison disease. Abnormal darkening of the skin. C36281 Integumentary System Finding C90259 NICHD Terminology C79750 Spasticity Spasticity Spastic Increased involuntary muscle tone caused by central nervous system disorders that affect the regions interfering with voluntary movement. It results in gait, movement, and speech disturbances. Representative examples of disorders causing spasticity include brain or spinal cord injury, and multiple sclerosis. Excessive muscle contraction and reflex hyperexcitability caused by lesions involving the upper motor neurons of the corticospinal tract. C110937 Musculoskeletal Finding C90259 NICHD Terminology C79777 Toxic Epidermal Necrolysis Toxic Epidermal Necrolysis Lyell's Syndrome A systemic, serious, and life-threatening disorder characterized by erythematous and necrotic lesions in the skin and mucous membranes that are associated with bullous detachment of the epidermis. The epidermal and mucous membranes detachment leads to sepsis and may be fatal. The lesions appear throughout the body and occupy more than 30% of the body surfaces. It is a hypersensitivity reaction usually caused by drugs (e.g., sulfonamides, nonsteroidal anti-inflammatory drugs, anticonvulsants, and antiretroviral drugs). Drug-induced rapidly evolving cutaneous reaction resulting in areas of painful skin sloughing of greater than 30% body surface area. C3371 Skin Disorder C90259 NICHD Terminology C79802 Ureter Obstruction Ureteral Obstruction Blockage of the normal flow of urine in the ureter. A blockage in one or both ureters. C79805 Urinary Tract Obstruction C90259 NICHD Terminology C79805 Urinary Tract Obstruction Urinary Tract Obstruction Blockage of the normal flow of contents of the urinary tract. An impediment to the flow of urine along the urinary tract. C3430 Urinary System Disorder C90259 NICHD Terminology C79821 Urethral Stricture Urethral Stricture Narrowing of the lumen of the urethra. A narrowing of the urethral lumen from disease or dysplasia involving part or all layers of the urethral wall. C79476 Urinary Tract Stenosis C90259 NICHD Terminology C79847 Vaginal Fistula Vaginal Fistula Fistulous Opening in Vagina An abnormal communication between the vagina and another organ or cavity. C27020 Female Reproductive System Disorder C3045 Fistula C90259 NICHD Terminology C79849 Bladder Fistula Bladder Fistula An abnormal communication between the urinary bladder and another organ or anatomic site. C2900 Bladder Disorder C3045 Fistula C90259 NICHD Terminology C79859 Abnormal Virilization Virilization Virilism The abnormal development of male secondary sexual characteristics due to excessive androgens. The abnormal development of male secondary sexual characteristics due to excessive androgens. C36285 Endocrine System Finding C90259 NICHD Terminology C80078 Chronic Kidney Disease Chronic Kidney Disease Chronic Renal Failure || Chronic Renal Insufficiency Impairment of the renal function secondary to chronic kidney damage persisting for three or more months. Impairment of the renal function secondary to chronic kidney damage persisting for three or more months. C3149 Kidney Disease C90259 NICHD Terminology C80082 Neonatal Death Neonatal Death Death of a live newborn during the first 28 days of life. Death of a live-born infant during the first 28 days after birth. C90491 Pregnancy Outcome C28554 Death C90259 NICHD Terminology C80085 Hemoglobin Decreased Hemoglobin Decreased A laboratory test result demonstrating decreased levels of hemoglobin in a biological specimen. A laboratory test result demonstrating decreased levels of hemoglobin in a biological specimen. C36292 Laboratory Test Result C90259 NICHD Terminology C80100 Presyncope Presyncope An episode of lightheadedness and dizziness which may precede an episode of syncope. An episode of lightheadedness and dizziness which may precede an episode of syncope. C100104 Sign or Symptom C90259 NICHD Terminology C80102 Suicidal Ideation Suicidal Ideation Thoughts of taking one's own life. Thinking about ending or making plans to end one's own life. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C8011 Thyrotroph Adenoma Thyroid Stimulating Hormone-Producing Adenoma TSH-producing Adenoma A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism. A benign pituitary tumor that produces thyroid-stimulating hormone. C3329 Pituitary Gland Adenoma C90259 NICHD Terminology C80111 Suicide Attempt Suicide Attempt Self-inflicted harm in an attempt to end one's own life. Self-inflicted harm with the intent to end one's own life. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C80112 Tooth Discoloration Tooth Discoloration A change in tooth color. Causes may be local or systemic and include tobacco use, foods, dental plaques, caries, restorative filling materials, trauma, medications, infections, hereditary diseases, and nutritional deficiencies. Abnormal tooth color. C35077 Dental Disorder C90259 NICHD Terminology C80297 Pediatric-Type Follicular Lymphoma Childhood Follicular Lymphoma Pediatric Follicular Lymphoma A nodal follicular lymphoma with favorable prognosis. It lacks BCL-2 rearrangement and 14;18 translocation. Nearly all cases are localized. It is usually seen in the pediatric population but similar lymphomas may occur in adults. A variant of follicular lymphoma seen in children and adolescents that lacks the translocation of t(14;18)(q32;q21) involving BCL2, which is generally found in adults. C7706 Childhood Non-Hodgkin Lymphoma C90259 NICHD Terminology C80299 Pediatric Nodal Marginal Zone Lymphoma Childhood Nodal Marginal Zone Lymphoma Pediatric Nodal Marginal Zone Lymphoma A nodal marginal zone lymphoma affecting the pediatric population, predominantly males. It presents with asymptomatic and localized (mainly head and neck) disease in the vast majority of cases. Morphologically there is often progressive transformation of the germinal centers. The prognosis is excellent. A nodal marginal zone lymphoma affecting the pediatric population, predominantly males. It presents with asymptomatic and localized (mainly head and neck) disease in the vast majority of cases. C7706 Childhood Non-Hodgkin Lymphoma C90259 NICHD Terminology C80324 Pathogen Pathogen An agent of disease; a disease producer. A microbial agent capable of producing disease. C14250 Organism C90259 NICHD Terminology C80374 Systemic EBV-Positive T-Cell Lymphoma of Childhood Systemic EBV-Positive T-Cell Lymphoproliferative Disease of Childhood An aggressive and life-threatening, EBV-positive T-cell lymphoma affecting children. It is more prevalent in Taiwan and Japan. Clinically, it presents with acute onset of fever and generalized malaise, followed by hepatosplenomegaly and liver failure. Morphologically it is characterized by the presence of infiltrating T-lymphocytes which are usually small and erythrophagocytosis. Most patients have a fulminant clinical course. An aggressive, life-threatening, EBV-positive T-cell lymphoproliferative disorder affecting children. C26323 Hematologic Disorder C90259 NICHD Terminology C80444 H1N1 Influenza H1N1 Influenza Swine flu An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness. C53482 Influenza C90259 NICHD Terminology C805 Rheumatoid Factor Rheumatoid Factor RA Factor || RF Antibodies in the serum of individuals with rheumatoid arthritis that react with antigenic determinants or immunoglobulins that enhance agglutination of suspended particles coated with pooled human gamma-globulin. Rheumatoid factors also occur in other autoimmune and certain infectious diseases. Antibodies that bind other immunoglobulins frequently seen in rheumatoid arthritis but can be found in other autoimmune diseases. C16295 Antibody C90259 NICHD Terminology C80512 Gastroparesis Gastroparesis Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine. Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C80520 Neutropenia Neutropenia Granulocytopenia A decrease in the number of neutrophils in the peripheral blood. Abnormally low level of neutrophils in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C80522 Urine Output Decreased Urine Output Decreased A finding indicating that the urine production is less than 500 milliliters during a 24 hour period. A finding indicating that the urine production is less than 500 milliliters during a 24 hour period. C100104 Sign or Symptom C90259 NICHD Terminology C8054 Thyroid Gland Follicular Carcinoma Follicular Thyroid Carcinoma A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. C3414 Thyroid Tumor C90259 NICHD Terminology C8060 Childhood Nodular Lymphocyte Predominant Hodgkin Lymphoma Childhood Nodular Lymphocyte Predominant Hodgkin Lymphoma A nodular lymphocyte predominant Hodgkin lymphoma occurring in children. A nodular lymphocyte-predominant, non-classical Hodgkin lymphoma that occurs during childhood. C7714 Childhood Hodgkin Lymphoma C90259 NICHD Terminology C8061 Childhood Lymphocyte-Depleted Classic Hodgkin Lymphoma Childhood Lymphocyte-Depleted Classical Hodgkin Lymphoma Lymphocyte-depleted classic Hodgkin lymphoma occurring in childhood. A lymphocyte-depleted, classical Hodgkin lymphoma that occurs during childhood. C69142 Childhood Classical Hodgkin Lymphoma C90259 NICHD Terminology C8062 Childhood Nodular Sclerosis Classic Hodgkin Lymphoma Childhood Nodular Sclerosis Classical Hodgkin Lymphoma Nodular sclerosis classic Hodgkin lymphoma occurring in childhood. A nodular sclerosis, classical Hodgkin lymphoma that occurs during childhood. C69142 Childhood Classical Hodgkin Lymphoma C90259 NICHD Terminology C8063 Childhood Mixed Cellularity Classic Hodgkin Lymphoma Childhood Mixed Cellularity Classical Hodgkin Lymphoma Mixed cellularity classic Hodgkin lymphoma occurring in childhood. A mixed cellularity, classical Hodgkin lymphoma that occurs during childhood. C69142 Childhood Classical Hodgkin Lymphoma C90259 NICHD Terminology C8066 Metastatic Childhood Soft Tissue Sarcoma Metastatic Childhood Soft Tissue Sarcoma A sarcoma that arises from the soft tissues during childhood and has spread from the original site of growth to another anatomic site. A sarcoma that arises from the soft tissues during childhood, and has spread from the original site of growth to another anatomic site. C7715 Childhood Soft Tissue Sarcoma C90259 NICHD Terminology C80683 Therapy-Related Leukemia Therapy Related Leukemia Treatment Induced Leukemia || Treatment Related Leukemia A leukemia arising as a result of the mutagenic effect of chemotherapy agents that are used for the treatment of a malignant tumor or exposure to ionizing radiation. Leukemia arising as a result of the mutagenic effect of prior therapy. C3161 Leukemia C90259 NICHD Terminology C8088 Childhood Fibrosarcoma Childhood Fibrosarcoma A malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. A fibrosarcoma occurring during childhood. C3043 Fibrosarcoma C90259 NICHD Terminology C8089 Childhood Synovial Sarcoma Childhood Synovial Sarcoma A synovial sarcoma occurring in childhood. A synovial sarcoma occurring during childhood. C7715 Childhood Soft Tissue Sarcoma C90259 NICHD Terminology C8091 Childhood Liposarcoma Childhood Liposarcoma A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma. A liposarcoma occurring during childhood. C9118 Sarcoma C90259 NICHD Terminology C8092 Childhood Alveolar Soft Part Sarcoma Childhood Alveolar Soft Part Sarcoma An alveolar soft part sarcoma occurring in children. The most common site of involvement is the head and neck, particularly the orbit and tongue. An alveolar soft part sarcoma occurring in children; the most common site of involvement is the head and neck, particularly the orbit and tongue. It is associated with t(X;17)(p11.2;q25). C7715 Childhood Soft Tissue Sarcoma C90259 NICHD Terminology C8093 Childhood Leiomyosarcoma Childhood Leiomyosarcoma An aggressive malignant smooth muscle neoplasm, occurring in children. It is characterized by a proliferation of neoplastic spindle cells. A leiomyosarcoma occurring during childhood. C7715 Childhood Soft Tissue Sarcoma C90259 NICHD Terminology C8094 Childhood Malignant Peripheral Nerve Sheath Tumor Childhood Malignant Peripheral Nerve Sheath Tumor Childhood Malignant Neurilemmoma || Childhood Malignant Schwannoma || Childhood Neurofibrosarcoma || Childhood Neurogenic Sarcoma A malignant peripheral nerve sheath tumor occurring in children. A malignant peripheral nerve sheath tumor occurring in children. C3268 Nervous System Neoplasm C90259 NICHD Terminology C8095 Childhood Epithelioid Sarcoma Childhood Epithelioid Sarcoma An epithelioid sarcoma occurring in childhood. An epithelioid sarcoma occurring during childhood. C7715 Childhood Soft Tissue Sarcoma C90259 NICHD Terminology C81178 Newborn Screening Newborn Screening A specific type of newborn examination performed to allow for early detection of disease(s) and/or disorder(s). A specific type of newborn examination performed to allow for early detection of disease(s) and/or disorder(s). C84749 Newborn Examination C90259 NICHD Terminology C81179 Delivery Procedure Delivery Procedure Description of the method by which a fetus is delivered. C89340 Obstetric Procedure C90259 NICHD Terminology C81181 Infant Reflex Infant Reflex Primitive reflex actions that newborns display in response to specific stimuli. These reflexes are involuntary and most disappear as the infant matures. Involuntary primitive reflex actions occurring in newborn infants in response to specific stimuli that disappear as the infant matures. C78342 Reflex C118807 Newborn or Infant Finding C90259 NICHD Terminology C81183 Amino Acid Measurement Amino Acid Measurement Measurement of Amino Acid The measurement of the amount of amino acids in a biologic specimen. C49286 Hematology Test C90259 NICHD Terminology C81184 Vernier Caliper Vernier Caliper A medical device that is a combination of ruler and caliper that can measure the distance between two points. The configuration of this device permits the measurement of internal dimensions. An instrument for measuring external or internal dimensions. It consists of an L-shaped frame with a linear scale along its longer arm and an L-shaped sliding attachment with a vernier, used to read directly the dimension of an object represented by the separation between the inner or outer edges of the two shorter arms. C62103 Device C90259 NICHD Terminology C81227 One Minute After Birth One Minute After Birth The actual time that is one minute after the birth of a fetus. This period is most commonly referenced during the administration of the Apgar test. C25207 Time C90259 NICHD Terminology C81228 Five Minutes After Birth Five Minutes After Birth The actual time that is five minutes after the birth of a fetus. This period is most commonly referenced during the administration of the Apgar test. C25207 Time C90259 NICHD Terminology C81229 Alcohol Use History Alcohol Use History A description of an individual's current and past experience with alcoholic beverage consumption. C18772 Personal Medical History C90259 NICHD Terminology C81230 Apgar Test Apgar Test A test devised by Dr. Virginia Apgar to assess the overall health of a newborn upon birth. The test is administered at one and five minutes after birth and allows for the assignation of numerical values between zero and two for specific observations regarding skin color, pulse rate, reflex irritability, muscle tone and breathing. C84749 Newborn Examination C90259 NICHD Terminology C81231 Attending Health Care Provider Attending Health Care Provider The individual assigned to be the primary care manager overseeing a patient's medical care during an episode of hospitalization. C25190 Person C90259 NICHD Terminology C81232 Bayley Scale of Infant Development I Bayley Scale of Infant Development I Bayley Scale of Infant Development || Bayley Scales of Infant Development The first edition of a standardized series of measurements that assesses the cognitive, motor, and behavioral development in infants and babies from one to twenty-four months of age. C81314 Newborn Behavorial Examination C90259 NICHD Terminology C81233 Behavioral Development Behavioral Development The evolution of actions, including reactions and responses to the environment, over an individual's lifespan. C17770 Maturation C90259 NICHD Terminology C81234 Behavioral Assessment Behavioral Assessment Assessment of individual responses to age appropriate stimuli. C25214 Evaluation Procedure C90259 NICHD Terminology C81235 Behavioral Rating Scale Behavioral Rating Scale Behavior Rating Scale A range of values designed to quantify the qualitative responses of an individual to a set of challenges. C81314 Newborn Behavorial Examination C90259 NICHD Terminology C81236 Birth Complication Birth Complication The development of a problematic medical situation that occurs concurrently with the birth of a neonate. C2959 Complication C90259 NICHD Terminology C81237 Birth Facility Birth Facility The facility which provides a setting with provisions for monitoring and delivering babies. C16495 Demographics C90259 NICHD Terminology C81238 Brazelton Neonatal Behavioral Assessment Scale Brazelton Neonatal Behavorial Assessment Scale Brazelton Neonatal Behavioral Assessment Scale An assessment tool created by Dr. T. Berry Brazelton and his colleagues to assist caregivers in determining developmental strengths and weaknesses in infants from birth to the age of two months. A specific type of newborn behavioral examination performed in infants from birth to the age of two months. C81314 Newborn Behavorial Examination C90259 NICHD Terminology C81239 Cause of Death Cause of Death The circumstance or condition that results in the death of a living being. C3367 Finding C90259 NICHD Terminology C81240 Cellular Telephone Number Cellular Telephone Number The sequence of numbers or characters, that when dialed, connects to a particular cellular telephone. C40978 Telephone Number C90259 NICHD Terminology C81241 Cognitive Development Cognitive Development The evolution of an individual's problem solving skills, memory, language development, and ability to process information about their environment. C17770 Maturation C90259 NICHD Terminology C81242 Crown to Rump Length Measurement Crown to Rump Length Measurement CRL A measurement from the high prominence of the head to the low prominence of the buttocks of a fetus or embryo during ultrasound. This measurement is useful in determining gestational age. A measurement from the high prominence of the head to the low prominence of the buttocks of a fetus or embryo during ultrasound. C81253 Gestational Age C90259 NICHD Terminology C81244 Deceased Sibling Deceased Sibling The historical fact that a legal or consanguineous brother or sister has died. C90491 Pregnancy Outcome C90259 NICHD Terminology C81245 Denver Development Screening Test Denver Development Screening Test A test developed at the University of Colorado Medical Center to assess the developmental status of infants and children from birth to six years of age. C84749 Newborn Examination C90259 NICHD Terminology C81246 Drug Use History Drug Use History A description of an individual's current and past use and/or abuse of drugs and chemicals. This includes prescription medication, illicit drugs and recreational substances. C18772 Personal Medical History C90259 NICHD Terminology C81247 Expected Date of Confinement Estimated Due Date EDC || EDD || Estimated Date of Confinement || Estimated Date of Delivery || Expected Date of Confinement The best estimated due date is determined by: last menstrual period (LMP) if confirmed by early ultrasound or no ultrasound performed, or early ultrasound if no known LMP or the ultrasound is not consistent with LMP, or known date of fertilization (e.g. Assisted Reproductive Technology (ART), Intrauterine Insemination (IUI)). Notes: 1. Ultrasound margin of error and "early" to be defined by SMFM/ACOG/NICHD workshop. 2. Pregnancy should not be re-dated by a later ultrasound after a best obstetrical estimate of EDD has been established. (adapted from reVITALize) The best estimated due date is determined by: last menstrual period (LMP) if confirmed by early ultrasound or no ultrasound performed, or early ultrasound if no known LMP or the ultrasound is not consistent with LMP, or known date of fertilization (e.g. Assisted Reproductive Technology (ART), Intrauterine Insemination (IUI)). C25164 Date C90259 NICHD Terminology C81248 Forceps Delivery Forceps Assisted Vaginal Delivery Forceps Assistance || Forceps Delivery || Forceps Operative Vaginal Delivery Application of forceps to the fetal head to facilitate vaginal birth. Application of forceps to the fetal head to facilitate vaginal birth. C81301 Vaginal Assisted Delivery C90259 NICHD Terminology C81249 Infant Formula Infant Formula A nutritional substitute for breast milk, usually with a foundation of cow or soy milk. C1909 Pharmacologic Substance C90259 NICHD Terminology C81251 Galactose-1-Phosphate Uridyltransferase Measurement Galactose-1-Phosphate Uridyltransferase Measurement The measurement of the galactose-1-phosphate uridyltransferase in a biologic specimen. C25294 Laboratory Procedure C90259 NICHD Terminology C81252 Gesell Developmental Schedule Gesell Developmental Schedule A scale used as an instrument to assess a child's motor and language development, as well as personal-social and adaptive behaviors. C81314 Newborn Behavorial Examination C90259 NICHD Terminology C81253 Gestational Weeks Assessment Gestational Age Gestational Weeks Assessment Gestational age (written with both weeks and days, e.g. 39 weeks and 0 days) is calculated using the best obstetrical estimated due date (EDD) based on the following formula: Gestational Age = (280 - (EDD - Reference Date))/ 7. Note: Reference Date is the date on which you are trying to determine gestational age. (reVITALize) Gestational age (written with both weeks and days, e.g. 39 weeks and 0 days) is calculated using the best obstetrical estimated due date (EDD) based on the following formula: Gestational Age = (280 - (EDD - Reference Date))/ 7. Note: Reference Date is the date on which you are trying to determine gestational age. [verbatim from reVITALize] C89335 Life Stage C90341 Pediatric Intervention or Procedure C90259 NICHD Terminology C81254 Grasp Reflex Grasp Reflex Palmar Grasp Reflex An involuntary, primal response in the neonate to grasp the fingers when their palm is touched. This reflex is present until six months of age. An involuntary response in the neonate to grasp the fingers when the palm is touched, that disappears by 4-6 months of age. C81181 Infant Reflex C90259 NICHD Terminology C81255 Head Circumference Head Circumference A circumferential measurement of the head at the widest point, which is traditionally above the eyebrows. The widest measurement of the head, when it is measured at its occipitofrontal circumference. C25334 Length C90259 NICHD Terminology C81256 Imaging Information Imaging Information A collection of data pertinent to a radiographic study. C18772 Personal Medical History C90259 NICHD Terminology C81257 Last Menstrual Period Last Menstrual Period The first day of the female's last menstrual cycle. C92720 Pregnancy Finding C90259 NICHD Terminology C81258 Last Screening Last Screening The most recent screening. C25164 Date C90259 NICHD Terminology C81259 Left Ear Left Ear The organ of hearing located on the left side of the head. C32221 Body Part C90259 NICHD Terminology C81260 Local Anesthesia Procedure Local Anesthesia Procedure The temporary suppression of sensation at a specific region of the body by pharmacological intervention. This type of anesthesia does not induce unconsciousness in the patient. C15181 Anesthesia Procedure C90259 NICHD Terminology C81262 Medical Record Number Medical Record Number An identifying number within an institution that is used to reference a subject's medical information. C18772 Personal Medical History C90259 NICHD Terminology C81263 Mental Development Index Mental Development Index A sequential arrangement of information pertaining to the evolution of an individual's cognitive development. C81314 Newborn Behavorial Examination C90259 NICHD Terminology C81264 Mental Scale Mental Scale A range of values that characterizes an individual's mental development. C81314 Newborn Behavorial Examination C90259 NICHD Terminology C81267 Feeding Method Feeding Method A description of the technique for the manner in which a subject is administered food. The technique for delivery of enteral nutrition. C3367 Finding C90259 NICHD Terminology C81268 Molar Ratio Molar Ratio The relative number of moles of one substance to another in a chemical reaction. C25709 Unit of Measure C90259 NICHD Terminology C81269 Motor Development Motor Development The evolution of physical movement over an individual's lifespan. C17770 Maturation C90259 NICHD Terminology C81270 Newborn Motor Scale Newborn Motor Scale A range of values used to quantify newborn motor development. C118807 Newborn or Infant Finding C90259 NICHD Terminology C81271 Multiple Birth Plurality Multiple Birth Multiple fetuses birthed live or dead in a single pregnancy regardless of gestational age, and regardless of whether the fetuses were birthed on different dates. Multiple fetuses birthed live or dead in a single pregnancy regardless of gestational age, and regardless of whether the fetuses were birthed on different dates. C90491 Pregnancy Outcome C25742 Pregnancy C90259 NICHD Terminology C81272 First Feeding First Feeding The first time that a neonate is provided nutrition. C25207 Time C90259 NICHD Terminology C81273 Doctor's Information Doctor's Information A collection of information about a patient's doctor. C18772 Personal Medical History C90259 NICHD Terminology C81275 Pass Pass One of two possible results of a pass/fail assessment; when the result satisfies a condition. C25180 Indicator C90259 NICHD Terminology C81276 Hemoglobin A to Total Hemoglobin Ratio Measurement Hemoglobin A to Total Hemoglobin Ratio Measurement The determination of the ratio of Hemoglobin A compared to total Hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. C64848 Hemoglobin Measurement C90259 NICHD Terminology C81277 Hemoglobin A2 to Total Hemoglobin Ratio Measurement Hemoglobin A2 to Total Hemoglobin Ratio Measurement The determination of the ratio of Hemoglobin A2 compared to total Hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. C64848 Hemoglobin Measurement C90259 NICHD Terminology C81278 Hemoglobin C to Total Hemoglobin Ratio Measurement Hemoglobin C to Total Hemoglobin Ratio Measurement The determination of the ratio of Hemoglobin C compared to total Hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. C64848 Hemoglobin Measurement C90259 NICHD Terminology C81279 Hemoglobin S to Total Hemoglobin Ratio Measurement Hemoglobin S to Total Hemoglobin Ratio Measurement Hemoglobin S Measurement The determination of the ratio of Hemoglobin S compared to total Hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. C64848 Hemoglobin Measurement C90259 NICHD Terminology C81280 Phenylalanine Measurement Phenylalanine Measurement The measurement of the amount of phenylalanine in a biologic specimen. C81183 Amino Acid Measurement C90259 NICHD Terminology C81281 Phenylalanine to Tyrosine Ratio Measurement Phenylalanine to Tyrosine Ratio Measurement Phenylalanine/Tyrosine Ratio Measurement The determination of the ratio of phenylalanine compared to tyrosine present in a sample. The measurement may be expressed as a ratio or percentage. C81183 Amino Acid Measurement C90259 NICHD Terminology C81282 Dubowitz Score Dubowitz Score Ballard Score || Ballard/Dubowitz Score The numerical value that represents a clinical assessment of neurological and physical criteria, performed between birth and five days of age, to determine an infant's gestational age and maturity. The numerical value that represents a clinical assessment of neurological and physical criteria, performed between birth and five days of age, to estimate an infant's gestational age and maturity. C118807 Newborn or Infant Finding C90259 NICHD Terminology C81283 Red Reflex Test Red Reflex Vision Test Red Reflex Test An optic examination in which an ophthalmoscope or retinoscope is placed approximately 30cm from the eye to visualize whether a reddish hue is reflected from the retina. An optic examination in which an ophthalmoscope or retinoscope is placed in front of the eye to determine whether a circular reddish hue is visible. C84749 Newborn Examination C90259 NICHD Terminology C81284 Residential Telephone Number Residential Telephone Number The sequence of numbers or characters, that when dialed, connects to a particular residential telephone. C40978 Telephone Number C90259 NICHD Terminology C81285 Right Ear Right Ear The organ of hearing located on the right side of the head. C32221 Body Part C90259 NICHD Terminology C81286 Collection Date Collection Date The date on which the sample or data was collected. C25164 Date C90259 NICHD Terminology C81287 Collection Time Collection Time The hour, minute, and/or second at which the sample or data was collected. C25207 Time C90259 NICHD Terminology C81288 S-Beta Thalassemia S-Beta Thalassemia A disorder characterized by the body's inability to synthesize beta-globin chains, leading to the formation of abnormal hemoglobin and anemia. This inherited autosomal recessive blood disorder is caused by germline mutation of the HBB gene. A heterozygous state in which a person has a loss of function mutation in one beta globin allele together with a hemoglobin S allele. C35069 Thalassemia C90259 NICHD Terminology C81289 Image Identifier Image Identifier A sequence of letters, numbers, or other characters that specifically identifies a particular image. C18772 Personal Medical History C90259 NICHD Terminology C81290 Shoulder Dystocia Shoulder Dystocia A birth complication caused by impaction of the anterior shoulder against the maternal symphysis pubis that requires additional maneuvers to relieve impaction of the fetal shoulder and allow for delivery. A birth complication caused by impaction of the anterior shoulder against the maternal symphysis pubis that requires additional maneuvers to relieve impaction of the fetal shoulder and allow for delivery. C81236 Birth Complication C90259 NICHD Terminology C81291 Sick Newborn Sick Newborn A neonate that is unwell. C16731 Newborn C90259 NICHD Terminology C81292 Social History Social History Past events that occurred between individuals and/or their communities. C18772 Personal Medical History C90259 NICHD Terminology C81293 Street Number Street Number The numeric or alphabetic identifier of a building on a thoroughfare. C16495 Demographics C90259 NICHD Terminology C81294 Submitting Facility Submitting Facility The hospital or medical institution that is submitting data or information. C16495 Demographics C90259 NICHD Terminology C81296 Birth Time Birth Time The hour, minute, and/or second at which birth occurs. C25207 Time C90259 NICHD Terminology C81297 Point in Time Test Given Point in Time Test Given The hour, minute, and/or second that an examination was administered. C25207 Time C90259 NICHD Terminology C81298 Total Body Length Total Body Length The total linear extent of the body. The total linear extent of the body measured from the crown of the head to the heel in the recumbent position. C25334 Length C90259 NICHD Terminology C81300 Vacuum Assisted Vaginal Delivery Vacuum Assisted Vaginal Delivery Vacuum Assistance || Vacuum Operative Vaginal Delivery Application of a vacuum device to the fetal head to facilitate vaginal birth. Application of a vacuum device to the fetal head to facilitate vaginal birth. C81301 Vaginal Assisted Delivery C90259 NICHD Terminology C81301 Vaginal Assisted Delivery Vaginal Assisted Delivery Assisted Vaginal Delivery Birth of the fetus through the vagina with the application of vacuum or forceps or any other instrument. Birth of the fetus through the vagina with the application of vacuum or forceps or any other instrument. C81303 Vaginal Delivery C90259 NICHD Terminology C81302 Vaginal Birth after Cesarean Delivery Vaginal Birth after Cesarean Delivery VBAC || Vaginal Birth after Caesarean || Vaginal Birth after Cesarean A vaginal birth in a woman with one or more previous cesarean births. (reVITALize) A vaginal birth in a woman with one or more previous cesarean births. [verbatim from reVITALize] C81303 Vaginal Delivery C90259 NICHD Terminology C81303 Vaginal Delivery Vaginal Delivery Birth of the fetus through the vagina. Birth of the fetus through the vagina. C81179 Delivery Procedure C90259 NICHD Terminology C81304 Blood Product Blood Product Any natural or synthetic composition that replicates the structure or function of a native component of blood. C13236 Body Fluid or Substance C90259 NICHD Terminology C81305 Bottle Feeding Bottle Feeding Provision of liquid nutrition via a closed container system with a rubber like mouthpiece resembling a nipple. Delivery of enteral nutrition by a bottle. C81267 Feeding Method C90259 NICHD Terminology C81306 Breathing Effort Score Breathing Effort Score A component of the Apgar score, it is the numerical value assigned to the assessment of breathing effort by a neonate. 0 = no spontaneous respirations; 1 = slow or irregular respirations or a weak cry; 2 = strong, consistent respirations with a robust cry. A component of the Apgar score, it is the numerical value assigned to the assessment of the newborn's breathing effort. 0 = no spontaneous respirations; 1 = slow or irregular respirations or a weak cry; 2 = strong, consistent respirations with a robust cry. C118807 Newborn or Infant Finding C90259 NICHD Terminology C81308 Galactose Measurement Galactose Measurement The measurement of the amount of galactose in a biologic specimen. C49286 Hematology Test C90259 NICHD Terminology C81309 Heart Rate Score Heart Rate Score A component of the Apgar score, it is the numerical value assigned to an assessment of the circulatory status of a neonate. 0 = no pulse; 1 = rate less than 100 beats per minute; 2 = rate greater than 100 beats per minute. A component of the Apgar score, it is the numerical value assigned to an assessment of the circulatory status of a neonate. 0 = no pulse; 1 = rate less than 100 beats per minute; 2 = rate greater than 100 beats per minute. C35552 Cardiovascular System Finding C90259 NICHD Terminology C81310 Lasso-O Measuring Tape Lasso-O Measuring Tape A measuring tape frequently used to measure head circumference in newborns. A measuring tape frequently used to measure head circumference in newborns. It can measure any circumference to the nearest millimeter and is manufactured from paper-thin, non-stretch, non-shrink plastic. C62103 Device C90259 NICHD Terminology C81311 Moro Reflex Moro Reflex An involuntary, primal response in the neonate to loud noise or the feeling of falling. The response is characterized by the infant's arms symmetrically spreading out to the side and then back to the midline, and involuntarily flexing the fingers and toes. An involuntary response in the neonate to the feeling of falling or a loud noise characterized by the infant's arms symmetrically spreading out to the side and then back to the midline, and flexion of the fingers and toes, that disappears by 4-6 months of age. C81181 Infant Reflex C90259 NICHD Terminology C81312 Muscle Tone Score Muscle Tone Score A component of the Apgar score, it is the numerical value assigned to an assessment of the residual muscle tension of a neonate. 0 = flaccid; 1 = flexion of extremities; 2 = active motion. A component of the Apgar score, it is the numerical value assigned to an assessment of the residual muscle tension of a neonate. 0 = flaccid; 1 = flexion of extremities; 2 = active motion. C118807 Newborn or Infant Finding C90259 NICHD Terminology C81313 Neurologic Examination Neurologic Examination Neurological Examination The assessment of the functionality of the brain, spinal column, and nerves. C25214 Evaluation Procedure C90259 NICHD Terminology C81314 Newborn Behavioral Examination Newborn Behavorial Examination Newborn Behavioral Examination The assessment of behavior in neonates. A neurodevelopmental assessment of the strengths, adaptive responses, and possible vulnerabilities in neonates. C84749 Newborn Examination C90259 NICHD Terminology C81315 Phenylketonuria Phenylketonuria PKU An autonomic recessive genetic disorder characterized by the body's inability to metabolize and utilize the amino acid phenylalanine, resulting in mental retardation, behavioral and movement problems, seizures, and developmental delays. C97090 Amino Acid Metabolism Disorder C3101 Genetic Disorder C90259 NICHD Terminology C81316 Physical Symmetry Physical Symmetry A physical attribute of visual balance and proportion between opposing structures. C25447 Characteristic C90259 NICHD Terminology C81319 Reflex Irritability Score Reflex Irritability Score A component of the Apgar score, it is the numerical value assigned to the neonate's response to stimuli, such as a mild pinch. 0 = no reaction; 1 = grimace; 2 = grimace with a cough, sneeze, or vigorous cry. A component of the Apgar score, it is the numerical value assigned to the neonate's response to tactile stimuli. 0 = no reaction; 1 = grimace; 2 = grimace with a cough, sneeze, or vigorous cry. C118807 Newborn or Infant Finding C90259 NICHD Terminology C81320 Rooting Reflex Rooting Reflex An involuntary, primal response in the neonate to search for the nipple when the cheek is touched. An involuntary response in the neonate to search for the nipple when the cheek is touched, that disappears by 3-4 months of age. C81181 Infant Reflex C90259 NICHD Terminology C81321 Skin Color Score Skin Color Score A component of the Apgar score, it is the numerical value assigned to an assessment of the color of the skin of a neonate. 0 = pale blue; 1 = pink body and pale blue extremities; 2 = pink body and extremities. A component of the Apgar score, it is the numerical value assigned to an assessment of the color of the skin of a neonate. 0 = blue; 1 = pink body and blue extremities; 2 = pink body and extremities. C36281 Integumentary System Finding C90259 NICHD Terminology C81322 Step Reflex Step Reflex Stepping Reflex An involuntary, primal response in the neonate to take brisk steps when the feet are placed on a surface whilst in a supported standing position. C81181 Infant Reflex C90259 NICHD Terminology C81323 Sucking Reflex Sucking Reflex Suck Swallow Reflex An involuntary, primal response in the neonate when a nipple is placed on an infant's lips. An involuntary response in the neonate when a nipple is placed on an infant's lips to rhythmically suck, that disappears by 2-5 months of age. C81181 Infant Reflex C90259 NICHD Terminology C81324 Tonic Neck Reflex Tonic Neck Reflex ATNR || Asymmetrical Tonic Neck Reflex An involuntary, primal response in the neonate in which the arm extends to follow the infant's gaze, while the opposing arm and leg flex inward. An involuntary response in the neonate in which the arm extends to follow the infant's gaze, while the opposing arm and leg flex inward, that disappears by 4-6 months of age. C81181 Infant Reflex C90259 NICHD Terminology C81325 Transferase Deficiency Galactosemia Transferase Deficiency Galactosemia Transferase Deficient Galactosemia A disorder characterized by the body's inability to metabolize galactose. This type of galactosemia is caused by germline mutations in the GALT gene which leads to the inhibition in the activity of the enzyme galactose-1-phosphate uridyl transferase. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C81326 Elevated Test Result Elevated Test Result A result of a test that is higher than a previous value or a normal range of values. C36292 Laboratory Test Result C90259 NICHD Terminology C81328 Body Weight Body Weight The weight of a subject. C25447 Characteristic C90259 NICHD Terminology C81772 Disseminated Juvenile Xanthogranuloma Disseminated Juvenile Xanthogranuloma Disseminated JXG Juvenile xanthogranuloma disseminated to extracutaneous sites including mucosal surfaces, lung, central nervous system, pituitary, lymph nodes, eye, liver, and bone marrow. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells forming nodules in the affected anatomic sites. Juvenile xanthogranuloma disseminated to extracutaneous sites, including mucosal surfaces, lung, central nervous system, pituitary, lymph nodes, eye, liver, and bone marrow. C3451 Juvenile Xanthogranuloma C90259 NICHD Terminology C82179 Mixed Phenotype Acute Leukemia Mixed Phenotype Acute Leukemia MPAL An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage. An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage or one population of blasts co-expressing markers of more than one lineage. C7464 Acute Leukemia of Ambiguous Lineage C90259 NICHD Terminology C82339 Transient Abnormal Myelopoiesis Associated with Down Syndrome Transient Abnormal Myelopoiesis Transient Myeloproliferative Disorder A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission. A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients, the myeloid proliferation undergoes spontaneous remission. C104003 Congenital Hematological Disorder C90259 NICHD Terminology C82343 Irritable Bowel Syndrome Irritable Bowel Syndrome Gastrointestinal symptoms characterized by chronic abdominal pain and altered bowel habits in the absence of any organic cause. Gastrointestinal symptoms characterized by chronic abdominal pain and altered bowel habits in the absence of any organic cause. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C82403 Acute Myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A Acute Myeloid Leukemia with t(9;11)(p22;q23); MLLT3-MLL AML with t(9;11)(p22;q23); MLLT3-MLL An acute myeloid leukemia associated with t(9;11)(p21.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation. An acute myeloid leukemia associated with t(9;11)(p22;q23) and MLLT3 (AF9)-MLL fusion protein expression. t(9;11) occurs in 10% of children with AML. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C90259 NICHD Terminology C82423 Acute Myeloid Leukemia with t(6;9) (p23;q34.1); DEK-NUP214 Acute Myeloid Leukemia with t(6;9)(p23;q34); DEK-NUP214 AML with t(6;9)(p23;q34); DEK-NUP214 An acute myeloid leukemia associated with t(6;9)(p23;q34.1) resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia. It affects both children and adults and it usually has an unfavorable clinical outcome. An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia. It is rare in children. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C90259 NICHD Terminology C82426 Acute Myeloid Leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2); GATA2, MECOM Acute Myeloid Leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1 AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1 An acute myeloid leukemia associated with inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2) resulting in the reposition of a distal GATA2 enhancer to activate MECOM expression. It may present de novo or follow a myelodysplastic syndrome. The clinical course is aggressive. An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of RPN1-EVI1 fusion protein. There have been rare cases in children that have been reported in the literature. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C90259 NICHD Terminology C82427 Acute Myeloid Leukemia (Megakaryoblastic) with t(1;22)(p13.3;q13.1); RBM15-MKL1 Acute Myeloid Leukemia (Megakaryoblastic) with t(1;22)(p13;q13); RBM15-MKL1 AML (Megakaryoblastic) with t(1;22)(p13;q13); RBM15-MKL1 An acute myeloid leukemia associated with t(1;22)(p13.3;q13.1) resulting in the expression of RBM15-MKL1 fusion protein. It affects infants and children and usually shows megakaryocytic maturation. An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C90259 NICHD Terminology C82431 Acute Myeloid Leukemia with Mutated NPM1 Acute Myeloid Leukemia with Mutated NPM1 AML with Mutated NPM1 An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy. An acute myeloid leukemia (AML) with mutation of the nucleophosmin gene. It is usually associated with normal karyotype. It is seen in 8% of children with AML. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C90259 NICHD Terminology C82433 Acute Myeloid Leukemia with Mutated CEBPA Acute Myeloid Leukemia with Mutated CEBPA AML with Mutated CEBPA An acute myeloid leukemia with non-germline mutations of the CEBPA gene. An acute myeloid leukemia (AML) with mutation of the CEBPA gene. It is usually associated with normal karyotype, and most cases meet the criteria for AML with or without maturation. It is seen in 5-8% of children with AML. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C90259 NICHD Terminology C82596 Refractory Cytopenia of Childhood Refractory Cytopenia of Childhood The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood. The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood. Most cases are associated with a normal karyotype, however, when abnormal, monosomy 7 is the most frequently seen cytogenetic abnormality. C68744 Childhood Myelodysplastic Syndrome C90259 NICHD Terminology C8264 Childhood Meningioma Childhood Meningioma A meningioma that occurs during childhood. A meningioma that occurs during childhood. C3230 Meningioma C5132 Childhood Central Nervous System Neoplasm C90259 NICHD Terminology C82673 Nocturia Nocturia Frequent episodes of urination during the night. The frequent need to urinate at night. C36286 Urinary System Finding C90259 NICHD Terminology C8288 Bone Marrow Involvement Bone Marrow Involvement Marrow Involvement Infiltration of the bone marrow by a malignant neoplasm. Infiltration of the bone marrow by a malignant neoplasm. C36289 Hematopoietic System Finding C90259 NICHD Terminology C82884 Lupus Panniculitis Lupus Panniculitis A condition primarily affecting the subcutaneous adipose tissues, showing firm nodules that often resolve with lipoatrophy. There can be overlying changes of discoid lupus erythematosus. A skin biopsy showing lobular panniculitis with typical changes of lupus is needed to rule out other causes of panniculitis, including subcutaneous panniculitis-like T-cell lymphoma. A condition primarily affecting the subcutaneous adipose tissues, showing firm nodules that often resolve with lipoatrophy. There can be overlying changes of discoid lupus erythematosus. A skin biopsy showing lobular panniculitis with typical changes of lupus is needed to rule out other causes of panniculitis, including panniculitic lymphoma. C36281 Integumentary System Finding C90259 NICHD Terminology C83006 Cholestasis Cholestasis Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system. Diminished or obstructed bile flow. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C8304 Childhood Acute Myeloid Leukemia with Minimal Differentiation Childhood Acute Myeloid Leukemia with Minimal Differentiation An acute myeloid leukemia with minimal differentiation occurring in children. An acute myeloid leukemia with minimal differentiation occurring in children. C8460 Acute Myeloid Leukemia with Minimal Differentiation C90259 NICHD Terminology C83495 Accelerated Growth Accelerated Growth A finding indicating a faster than normal rate of development. Linear growth rate greater than the 50th percentile for age and sex. C36285 Endocrine System Finding C90259 NICHD Terminology C83507 Respiratory Tract Aspiration Aspiration Respiratory Tract Aspiration Accidental inhalation of a foreign material into the lungs. The entry of foreign material past the larynx, and into the lower respiratory tract. C45233 Respiratory System Finding C90259 NICHD Terminology C83508 Infectious Conjunctivitis Infectious Conjunctivitis An infectious process affecting the conjunctiva. Conjunctivitis that is caused by an infectious agent. C34504 Conjunctivitis C26726 Infectious Disorder C90259 NICHD Terminology C84348 Phakomatosis Phakomatosis Neurocutaneous Syndrome A hereditary syndrome affecting the central nervous system that is associated with lesions of the skin and retina. Representative examples include neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome, and Sturge-Weber syndrome. C97172 Congenital Nervous System Disorder C90259 NICHD Terminology C84354 Infectious Otitis Media Acute Otitis Media AOM || Infectious Otitis Media || Middle Ear Infection Inflammation of the anatomical structures of the middle ear secondary to an infectious process. Bacterial etiology is most common, but both viral and fungal pathogens are also possible. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. In severe infections, inflammation and edema of the structures of the middle ear can lead to perforation of the tympanic membrane secondary to the buildup of pressure in the narrow space. Otitis media that is caused by an infectious agent. C34885 Otitis Media C90259 NICHD Terminology C84392 Mental Retardation Mental Retardation A developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18. A condition of arrested or incomplete development of the mind, which is especially characterized by impairment of skills manifested during the developmental period, which contribute to the overall level of intelligence, i.e. cognitive, language, motor, and social abilities. C92190 Pediatric Psychiatric Disorder C90259 NICHD Terminology C84396 Acute Liver Failure Acute Liver Failure Rapid deterioration of liver function causing encephalopathy and coagulopathy. It results from damage to the liver parenchyma usually secondary to acetaminophen overdose or viral infections. Evidence of acute hepatic dysfunction in the absence of chronic liver disease with coagulopathy unresponsive to Vitamin K. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C84397 Alpha-1 Antitrypsin Deficiency Alpha-1-Antitrypsin Deficiency A genetic disorder characterized by decreased alpha-1 antitrypsin activity in the lungs and blood and deposition of alpha-1 antitrypsin protein in the hepatocytes. These abnormalities result from defective production of alpha-1 antitrypsin and lead to the development of emphysema, cirrhosis, and liver failure. C3101 Genetic Disorder C90259 NICHD Terminology C84417 Diabetic Nephropathy Diabetic Nephropathy Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis. Nephropathy resulting from diabetes mellitus. It is usually associated with proteinuria and progressive glomerulosclerosis. C80078 Chronic Kidney Disease C90259 NICHD Terminology C84428 End Stage Liver Disease End-Stage Liver Disease Chronic Liver Failure A disorder characterized by irreversible damage to the liver tissue, leading to complete liver failure. Causes include cirrhosis, viral hepatitis, metastases to the liver, genetic disorders, toxins, and drugs. A progressive systemic illness occurring in the setting of cirrhosis, characterized by coagulopathy not corrected by vitamin K, cholestasis, portal hypertension, and variable encephalopathy. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C84446 Neonatal Hepatitis Neonatal Hepatitis Hepatitis developing during the neonatal period. A broad category of conditions causing inflammation of the liver, usually presenting during the first month of life. C2990 Gastrointestinal Disorder C98996 Neonatal Disorder C90259 NICHD Terminology C84449 Childhood Obesity Childhood Obesity A condition in which a child's body mass index (BMI) falls at or above the 95th percentile based on the normative values for the age and sex of the reference population. A condition in which a child's body mass index (BMI) falls at or above the 95th percentile based on the normative values for the age and sex of the reference population. C89328 Pediatric Disorder C90259 NICHD Terminology C84467 Vesicoureteral Reflux Vesicoureteral Reflux Vesicoureteric Reflux Abnormal flow of urine from the urinary bladder back into the ureters. Retrograde flow of urine from the urinary bladder into the upper urinary tract. C3430 Urinary System Disorder C90259 NICHD Terminology C84473 Atrial Septal Defect Atrial Septal Defect The presence of a defect (opening) in the septum that separates the two atria of the heart. It can be congenital or acquired. C84482 Congenital Septal Defect C90259 NICHD Terminology C84479 Thrombophilia Thrombophilia Hypercoagulability || Hypercoagulability State || Hypercoagulable A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome. Abnormally increased tendency of the blood to form clots. C2902 Coagulation Disorder C90259 NICHD Terminology C84480 Heart Murmur Heart Murmur A periodic humming or blowing sound heard on auscultation of the heart that can indicate the presence of cardiac disease; murmurs are the result of vibrations caused by the turbulent flow of blood in the heart or great vessels. Murmurs are characterized according to the area of generation (mitral, aortic, tricuspid, or pulmonary) and according to the period of the cycle (systolic or diastolic). C35552 Cardiovascular System Finding C90259 NICHD Terminology C84481 Hemochromatosis Hemochromatosis An inherited metabolic disorder characterized by iron accumulation in the tissues. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C84482 Congenital Septal Defect Congenital Septal Defect Cardiac Septal Defects A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum. C95834 Congenital Heart Disease C90259 NICHD Terminology C84484 Iron-Deficiency Anemia Iron-Deficiency Anemia Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss. Anemia caused by inadequate bioavailable iron. C34380 Hypochromic Anemia C90259 NICHD Terminology C84492 Patent Ductus Arteriosus Patent Ductus Arteriosus A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure. C95834 Congenital Heart Disease C90259 NICHD Terminology C84501 Restless Leg Syndrome Restless Leg Syndrome A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to move the legs to obtain relief from a strange and uncomfortable sensation in the legs. Uncomfortable or painful sensation associated with an irresistible urge to move the limbs, usually triggered by relaxation or lying down. C26835 Nervous System Disorder C90259 NICHD Terminology C84505 Tetralogy of Fallot Tetralogy of Fallot A congenital heart disorder characterized by the presence of the following four abnormalities: ventricular septal defect, pulmonary stenosis, overriding aorta, and right ventricular hypertrophy. C95834 Congenital Heart Disease C90259 NICHD Terminology C84506 Ventricular Septal Defect Ventricular Septal Defect The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired. The presence of a defect (opening) in the septum that separates the two ventricles of the heart. The VSD can be congenital or acquired. C84482 Congenital Septal Defect C90259 NICHD Terminology C84522 Deletion 18q Syndrome Chromosome 18q Deletion Syndrome 18q Deletion Syndrome || 18q-Syndrome A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts. A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts. C28193 Syndrome C90259 NICHD Terminology C84523 HMG-CoA Lyase Deficiency HMG-CoA Lyase Deficiency Deficiency of Hydroxymethylglutaryl-CoA Lyase || Hydroxymethylglutaric Aciduria || Hydroxymethylglutaryl-CoA Lyase Deficiency A rare genetic inherited disorder characterized by inability of the body to process the amino acid leucine. Signs and symptoms include vomiting, dehydration, lethargy, convulsions, and coma. C97090 Amino Acid Metabolism Disorder C3101 Genetic Disorder C90259 NICHD Terminology C84524 5' 10' Methylenetetrahydrofolate Reductase Deficiency 5,10-Methylenetetrahydrofolate Reductase Deficiency A rare disorder associated with mental retardation, spasticity, and early death. 5,10-Methylenetetrahydrofolate reductase deficiency is the most prevalent inborn error of folate metabolism, and has variable clinical manifestations from asymptomatic to severe psychomotor retardation, microcephalus and seizure. Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine. C3101 Genetic Disorder C3492 Enzyme Deficiency C90259 NICHD Terminology C84533 Acromegaly Acromegaly A syndrome characterized by enlargement of the hands, feet, ears, nose, lips, and tongue, skin thickening and swelling of internal organs. It is caused by overproduction of growth hormone in the pituitary gland, usually by a pituitary adenoma. Excessive growth of body tissues due to overproduction of growth hormone in an individual who has completed linear growth. C3009 Endocrine System Disorder C90259 NICHD Terminology C84537 Long-Chain Acyl-CoA Dehydrogenase Deficiency Long-Chain Acyl-CoA Dehydrogenase Deficiency LCAD || Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy. C34816 Congenital Metabolic Disorder C3492 Enzyme Deficiency C90259 NICHD Terminology C84538 Medium-Chain Acyl-CoA Dehydrogenase Deficiency Medium-Chain Acyl-CoA Dehydrogenase Deficiency MCAD || Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency A genetic disorder characterized by deficiency of the enzyme medium-chain acyl-coenzyme A dehydrogenase that metabolizes medium-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia and lethargy. C3101 Genetic Disorder C3492 Enzyme Deficiency C90259 NICHD Terminology C84541 African Trypanosomiasis African Trypanosomiasis A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death. A protozoan infection that is caused by Trypanosoma brucei, which is transmitted by tsetse flies; it is characterized by fever, joint pain, headache, and lymphadenopathy, and it may progress to multi-organ involvement. C34953 Protozoal Infection C90259 NICHD Terminology Sleeping Sickness C84543 Albinism Albinism A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair and skin. C97174 Congenital Skin Disorder C3101 Genetic Disorder C90259 NICHD Terminology C84547 Allergic Bronchopulmonary Aspergillosis Allergic Bronchopulmonary Aspergillosis ABPA An immune reaction to aspergillus in patients usually suffering from asthma or cystic fibrosis. A hypersensitivity reaction to Aspergillus in patients who are usually suffering from cystic fibrosis or asthma. C2886 Aspergillosis C90259 NICHD Terminology C84549 Alstrom Syndrome Alström Syndrome A rare autosomal recessive syndrome caused by mutations in the gene ALMS1. Signs and symptoms include blindness, obesity, hearing loss, endocrine abnormalities, cardiomyopathy and congestive heart failure, hepatic and renal failure. An autosomal recessive syndrome caused by mutation(s) in the ALMS1 gene encoding Alstrom syndrome protein 1. The condition is characterized by hyperphagia, obesity, insulin resistance, type 2 diabetes mellitus, hypogonadism, blindness, hearing loss, dilated cardiomyopathy and congestive heart failure, and hepatic and renal failure. Additionally, polycystic ovarian syndrome may occur in female individuals. C28193 Syndrome C90259 NICHD Terminology C84550 Amaurosis Fugax Amaurosis Fugax Transient, monocular loss of vision. Transient, monocular loss of vision. C100104 Sign or Symptom C90259 NICHD Terminology C84551 Amebiasis Amebiasis A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs. A gastrointestinal parasitic infection that is caused by Entamoeba histolytica, and which has a spectrum of manifestations including bloody diarrhea and colitis; extraintestinal infection involves the liver, brain, and lungs. C34953 Protozoal Infection C90259 NICHD Terminology C84552 Amniotic Band Syndrome Amniotic Band Syndrome Deformity due to Amniotic Band A rare congenital disorder which is caused by entrapment of anatomic parts of the fetus in fibrous amniotic bands during pregnancy. It may result in the formation of constriction rings around the digits and upper and lower extremities, swelling of the extremities and congenital amputations. A congenital disorder which is caused by entrapment of anatomic parts of the fetus in fibrous amniotic bands during pregnancy. C2849 Congenital Malformation C90259 NICHD Terminology C84560 Anencephaly Anencephaly Anencephalus A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus. C97172 Congenital Nervous System Disorder C90259 NICHD Terminology C84564 Ankylosing Spondylitis Ankylosing Spondylitis An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine. An immune-mediated disease characterized by inflammation in the axial skeleton including sacroiliac joints, vertebrae and vertebral joints. Peripheral joints may be involved as well. Clinical features can include low back pain and stiffness, limited motion of the lumbar spine, and limited chest expansion. C2889 Autoimmune Disease C90259 NICHD Terminology C84565 Anthrax Anthrax An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers. An infection that is caused by Bacillus anthracis, which is usually acquired by contact with infected animals, contaminated animal products, or directly from soil; it may affect the lungs, gastrointestinal tract, skin, and/or central nervous system. C35803 Zoonotic Infection C2890 Bacterial Infection C90259 NICHD Terminology C84567 Aortic Coarctation Coarctation of Aorta Aortic Coarctation Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps. C99137 Great Vessels Abnormality C90259 NICHD Terminology C84569 Argininosuccinic Aciduria Argininosuccinic Aciduria Argininosuccinate Lyase Deficiency A genetic inherited disorder caused by mutations in the ASL gene. It is characterized by accumulation of ammonia in the blood. It presents with lethargy in the first few days of life, accompanied by developmental delay and mental retardation. C3101 Genetic Disorder C3492 Enzyme Deficiency C90259 NICHD Terminology C84570 Arnold-Chiari Malformation Arnold-Chiari Malformation (Arnold) Chiari Malformation || Chiari Malformation A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus. C97172 Congenital Nervous System Disorder C90259 NICHD Terminology C84572 Arthrogryposis Arthrogryposis A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth. C89337 Congenital Musculoskeletal Defect C90259 NICHD Terminology C84578 Autosomal Dominant Polycystic Kidney Disease Autosomal Dominant Polycystic Kidney Disease Polycystic kidney disease inherited in an autosomal dominant pattern. Symptoms usually appear at middle age and include abdominal pain, hematuria and high blood pressure. Patients may develop brain aneurysms and liver cysts. Polycystic kidney disease inherited in an autosomal dominant pattern. C75464 Polycystic Kidney Disease C90259 NICHD Terminology C84579 Autosomal Recessive Polycystic Kidney Disease Autosomal Recessive Polycystic Kidney Disease Polycystic Kidney Disease, Infantile Type Polycystic kidney disease inherited in an autosomal recessive pattern. Patients present with progressive renal failure early in life. The autosomal recessive trait is associated with abnormalities of chromosome 6. Autosomal recessive polycystic kidney disease caused by a mutation(s) in PKHD1 that is always associated with liver disease. C3101 Genetic Disorder C75464 Polycystic Kidney Disease C90259 NICHD Terminology C84581 Babesiosis Babesiosis A parasitic infection caused by Babesia. It is transmitted by ticks and infects the red blood cells. Signs and symptoms include fever, fatigue and hemolytic anemia. A malaria-like, tickborne, protozoan zoonosis that is caused by Babesia. C34953 Protozoal Infection C35803 Zoonotic Infection C90259 NICHD Terminology C84583 Balantidiasis Balantidiasis A parasitic protozoal infection caused by Balantidium coli that involves the large intestinal mucosa. Signs and symptoms include nausea, vomiting, diarrhea, abdominal pain, fever, headache and weight loss. A protozoan intestinal infection that is caused by Balantidium coli; the symptoms may include watery diarrhea or dysentery, and the spectrum of illness ranges from asymptomatic infection to fulminant and fatal disease. C34953 Protozoal Infection C35803 Zoonotic Infection C90259 NICHD Terminology C84585 Barth Syndrome Barth Syndrome 3-Methylglutaconic Aciduria Type 2 A rare X-linked syndrome caused by mutations in TAZ1 gene. Signs and symptoms include cardiomyopathy, neutropenia, muscle weakness and atrophy, growth delay, cardiolipin deficiency and 3-methylglutaconic aciduria. C3101 Genetic Disorder C90259 NICHD Terminology C84586 Bartonella Infection Bartonellosis Bartonella Infection A gram-negative bacterial infection caused by bacteria of the genus Bartonella. It is transmitted by ticks, flies and mosquitoes. Signs and symptoms include fever, headache, muscle pain, enlargement of the lymph nodes and anemia. An infection that is caused by Bartonella species; it is transmitted by ticks, flies, and mosquitoes. C2890 Bacterial Infection C90259 NICHD Terminology C84594 Berardinelli-Seip Congenital Lipodystrophy Congenital Generalized Lipodystrophy Berardinelli Lipodystrophy Syndrome || Berardinelli Seip Syndrome || Lawrence-Seip Syndrome || Seip-Bernardinelli Syndrome || Total Lipodystrophy A genetic disorder caused by mutations in the AGPAT2 and BSCL2 genes. It is characterized by lipoatrophy in the trunk, face, and extremities, hypertriglyceridemia, muscle hypertrophy, cardiomyopathy and hepatomegaly. Patients develop insulin resistance, leading to diabetes mellitus. An autosomal recessive condition associated with mutation(s) in multiple genes: the CAV1 gene (encoding caveolin-1); the AGPAT2 gene (encoding 1-acyl-sn-glycerol-3-phosphate acyltransferase beta); the BSCL2 gene (encoding seipin); or the PTRF gene (encoding polymerase I and transcript release factor). Clinical manifestations include lipoatrophy affecting the trunk, limbs, and face; acromegaloid features; hepatomegaly secondary to hepatic steatosis; skeletal muscle hypertrophy; hypertrophic cardiomyopathy; hypertriglyceridemia; severe insulin resistance; and impaired glucose tolerance or diabetes. C28193 Syndrome C90259 NICHD Terminology C84595 Bernard-Soulier Syndrome Bernard-Soulier Syndrome Platelet Glycoprotein Ib Deficiency A rare, autosomal recessive bleeding disorder characterized by deficiency or absence of the Ib/IX/V complex on the surface of platelets. It results in thrombocytopenia, prolonged bleeding time and the presence of giant platelets. A rare, autosomal recessive bleeding disorder characterized by deficiency or absence of the Ib/IX/V complex on the surface of platelets. It results in thrombocytopenia, prolonged bleeding and the presence of giant platelets. C131634 Platelet Abnormality C28193 Syndrome C90259 NICHD Terminology C84598 Biotinidase Deficiency Biotinidase Deficiency A genetic disorder caused by mutations in the BTD gene. It is characterized by reduced or absent activity of the enzyme biotinidase which is responsible for the recycling of the vitamin biotin. Signs and symptoms appear in childhood and include seizures, hypotonia and developmental delays. If left untreated, it leads to vision and hearing loss, infections, alopecia and ataxia. C3101 Genetic Disorder C3492 Enzyme Deficiency C90259 NICHD Terminology C84599 Botulism Botulism A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure. A rare but serious paralytic illness that is caused by a nerve toxin that is most often produced by Clostridium botulinum, but also rarely by strains of Clostridium butyricum and Clostridium baratii. There are five types of botulism: foodborne, wound, infant, adult intestinal toxemia (adult intestinal colonization), and iatrogenic. C2890 Bacterial Infection C90259 NICHD Terminology C8460 Acute Myeloid Leukemia with Minimal Differentiation Acute Myeloid Leukemia with Minimal Differentiation An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001) An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001) C3171 Acute Myeloid Leukemia C90259 NICHD Terminology C84602 Brucellosis Brucellosis Undulant Fever A gram negative bacterial infection caused by bacteria of the genus Brucella. Humans are infected by ingesting unpasteurized milk or meat from infected animals. Signs and symptoms include fevers, sweating, weakness, headache, muscle pain, arthritis and anemia. An infection that is caused by Brucella species, which is acquired from contact with infected animals, their carcasses, or their milk; it is characterized by fever, sweating, migrating arthralgia, and myalgia. C2890 Bacterial Infection C90259 NICHD Terminology C84607 Calciphylaxis Calciphylaxis A rare syndrome characterized by vascular calcification and skin necrosis. It seen in patients with end stage renal disease. A syndrome of vascular calcification and thrombosis with cutaneous necrosis that is usually associated with severe chronic kidney disease. C27120 Electrolyte Disorder C90259 NICHD Terminology C84609 Campomelic Dysplasia Campomelic Dysplasia CMD A genetic congenital disorder characterized by bowing and angulation of the long bones. It may be associated with other skeletal and extraskeletal defects. A condition associated with heterozygous mutation(s) in the SOX9 gene, characterized in 46,XY individuals by atypical development of the gonads ("sex reversal"), internal and external reproductive structures, with (campomelic) or without (acampomelic) skeletal dysplasia. C84978 Osteochondrodysplasia C90259 NICHD Terminology C84610 Camurati-Engelmann Syndrome Progressive Diaphyseal Dysplasia Camurati-Englemann Disease An autosomal dominant skeletal disorder caused by mutations in the TGFB1 gene. It is characterized by thickening of the bones, particularly the long bones of the extremities. It is associated with muscle weakness and tiredness. An autosomal dominant form of craniotubular hyperostosis due to mutation(s) in the TGFB1 gene, encoding transforming growth factor beta-1. In addition to the long bone dysplasia, anemia, leukopenia, and hepatosplenomegaly may occur. C28193 Syndrome C90259 NICHD Terminology C84611 Canavan Disease Canavan Disease Spongy Degeneration of Central Nervous System A disorder that belongs in the group of leukodystrophies. It is caused by mutations in the ASPA gene which is responsible for the production of the enzyme aspartoacylase. It is characterized by spongy degeneration of the white matter of the brain. Signs and symptoms appear in infancy and include mental retardation, loss of motor skills, abnormal muscle tone, feeding difficulties and a very large head. Spongy degeneration of central nervous system, spongy degeneration of white matter a rare hereditary form of leukodystrophy of early onset in which widespread demyelination and vacuolation of cerebral white matter gives it a spongy appearance; there is mental retardation, megalocephaly, atony of neck muscles, limb spasticity, and blindness, with death in infancy. C2934 Central Nervous System Disorder C90259 NICHD Terminology C84612 Carbamoyl-Phosphate Synthetase I Deficiency Carbamoyl Phosphate Synthetase Deficiency A congenital disorder caused by mutations in the CPS1 gene. It is characterized by accumulation of ammonia in the blood. Signs and symptoms appear in infancy and include lethargy, seizures, developmental delay and mental disability. C84785 Urea Cycle Metabolism Disorder C90259 NICHD Terminology C84615 Carbohydrate-Deficient Glycoprotein Syndrome Carbohydrate-Deficient Glycoprotein Syndrome Congenital Disorders of Glycosylation An genetically heterogeneous group of autosomal recessive disorders of carbohydrate metabolism characterized by psychomotor retardation, growth retardation, ataxia, seizures, hepatomegaly with steatosis and hypothyroidism. A group of metabolic syndromes present at birth that result from deficient N-glycosylation of proteins. The manifestations are heterogenous and multi-systemic, and may include hypoglycemia due to hyperinsulinism and growth failure. C3101 Genetic Disorder C90259 NICHD Terminology C84617 Cardiofaciocutaneous Syndrome Cardiofaciocutaneous Syndrome CFC Syndrome A rare genetic syndrome most often caused by BRAF gene mutations. It is characterized by a distinctive facial appearance (high forehead, short nose, and widely spaced eyes), sparse and brittle hair, skin disorders, heart malformations, mental retardation and developmental delay. A rare, genetic syndrome most often caused by BRAF gene mutations, and characterized by a distinctive facial appearance (high forehead, short nose, and widely spaced eyes), sparse and brittle hair, skin conditions, heart malformations, developmental delay, developmental delay and possible short stature due to reduced growth hormone. C28193 Syndrome C90259 NICHD Terminology C84620 Cat-Scratch Disease Cat-Scratch Disease Cat-Scratch Fever A bacterial infection caused by Bartonella henselae. It is transmitted to humans from a scratch, bite, or lick from a cat. A blister or a bump appears on the skin following the scratch or bite. Subsequently, there is lymph node enlargement around the scratch or bite site. The lymph node enlargement most often occurs under the arm or the neck. Some patients experience fever, fatigue, headaches or sore throat as well. An infection that is caused by Bartonella henselae, which is transmitted to humans from a scratch, bite, or lick from an infected cat. A local, erythematous papule or blister may appear on the skin. Patients characteristically come to medical attention for lymph node enlargement, for fever, or, rarely, for central nervous system symptoms. C35803 Zoonotic Infection C2890 Bacterial Infection C90259 NICHD Terminology C84629 Chagas Disease Chagas Disease American Trypanosomiasis A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias. A protozoan infection that is caused by Trypanosoma cruzi; it is transmitted by triatomine insects, and is characterized by acute (fever and local swelling) and chronic (hepatosplenomegaly, lymphadenopathy, cardiomyopathy) phases. C34953 Protozoal Infection C35803 Zoonotic Infection C90259 NICHD Terminology C84632 Chondrodysplasia Punctata Chondrodysplasia Punctata Chondrodysplasia Punctata (Stippled Epiphyses) Group A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis. C84978 Osteochondrodysplasia C90259 NICHD Terminology C84633 Chorea Chorea A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease. A movement disorder affecting the limbs, trunk, and facial muscles that is characterized by involuntary, unpredictable jerking movements. C116757 Movement Disorders C90259 NICHD Terminology C84638 Ciliary Motility Defect Ciliary Motility Defect Dysmotility Syndrome || Immotile Cilia Syndrome Defective movements of the cilia. It includes abnormal movements of the cilia in the nose and paranasal sinuses, the respiratory tract and spermatozoa. C9229 Systemic Disorder C90259 NICHD Terminology C84639 Citrullinemia Citrullinemia A rare autosomal recessive inherited disorder caused by mutations in the ASS1 and SLC25A13 genes. It is characterized by a defective urea cycle, resulting in the accumulation of ammonia and other toxic substances in the blood. C84785 Urea Cycle Metabolism Disorder C90259 NICHD Terminology C84641 Clubfoot Talipes Club Foot || Clubfoot || Talipes Equinovarus The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply. A congenital malformation involving one or both feet, in which the affected foot is rotated inward and downward. C84978 Osteochondrodysplasia C90259 NICHD Terminology C84642 Coccidioidomycosis Coccidioidomycosis Valley Fever A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease. An infection that is caused by Coccidioides immitis, which typically manifests as a flu-like illness, although pneumonia and systemic infection can occur. C3245 Fungal Infection C90259 NICHD Terminology C84644 Cogan-Reese Syndrome Cogan-Reese Syndrome A very rare syndrome characterized by eye abnormalities that lead to vision impairment. These abnormalities include iris atrophy, decreased corneal endothelium, iris nodules, adhesion of the iris to the lens and glaucoma. C2849 Congenital Malformation C90259 NICHD Terminology C84646 Congenital Dyserythropoietic Anemia Congenital Dyserythropoietic Anemia A rare group of disorders that result in anemia that is caused by ineffective erythropoiesis, which is associated with multinuclear erythroblasts, and which may present in childhood. The most common mutations are in the CDAN1 and SEC23B genes. A rare group of disorders that result in anemia that is caused by ineffective erythropoiesis, which is associated with multinuclear erythroblasts, and which may present in childhood. The most common mutations are in the CDAN1 and SEC23B genes. C35228 Congenital Anemia C90259 NICHD Terminology C84649 Congenital Syphilis Congenital Syphilis A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia. Treponema pallidum infection in the neonate that was transmitted through the placenta. C35055 Syphilis C90259 NICHD Terminology C84651 Cor Triatriatum Cor Triatriatum A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities. C95834 Congenital Heart Disease C90259 NICHD Terminology C84652 Costello Syndrome Costello Syndrome A genetic syndrome caused by mutations in the HRAS gene. It is characterized by developmental delay, mental retardation, loose skin folds, cardiomyopathy, tachycardia, and structural heart defects. Patients are at an increased risk of developing benign or malignant neoplasms. An autosomal dominant syndrome caused by mutations in the HRAS gene, encoding GTPase HRas, a signaling molecule involved in control of cell growth and division. The condition is characterized by coarse facial features, loose skin folds, developmental delays, hypotonia, multiple cardiac problems (structural heart anomalies, hypertrophic cardiomyopathy), short stature, hyperinsulinism, and an increased risk for development of neoplasia. C28193 Syndrome C90259 NICHD Terminology C84653 Craniofacial Dysostosis Craniofacial Dysostosis Crouzon Syndrome A syndrome inherited in an autosomal dominant pattern. It is characterized by early fusion of the bones of the skull and face. Patients have a distinctive facial appearance which includes low-set ears, brachycephaly, hypertelorism, exophthalmos, and mandibular prognathism. C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C84655 Craniosynostosis Craniosynostosis Craniosynostosis Syndrome A congenital disorder characterized by earlier than normal closure of some or all sutures of the infant skull. C89337 Congenital Musculoskeletal Defect C90259 NICHD Terminology C84657 Cryopyrin-Associated Periodic Syndrome Cryopyrin-Associated Periodic Syndrome CAPS || Cryopyrinopathy A group of autoinflammatory syndromes caused by mutations in the NLRP3 gene. Signs and symptoms include rash, fever, headache, joint pain, conjunctivitis, and weakness. The symptoms may exacerbate with exposure to cold weather. A family of autoinflammatory diseases caused by gain of function mutations in NLRP3, which encodes cryopyrin, resulting in inflammasome activation and enhanced IL-1 beta and IL-18 production. This results in clinical signs and symptoms of inflammation in the form of rash, fever, joint, neurologic and eye symptoms, with increased acute phase reactants. C3101 Genetic Disorder C2889 Autoimmune Disease C90259 NICHD Terminology C84668 Denys-Drash Syndrome Denys-Drash Syndrome Nephrotic Syndrome Type 4 A rare congenital syndrome caused by mutations in the WT1 gene. It is characterized by the presence of congenital nephropathy (diffuse mesangial sclerosis), Wilms tumor, and intersex disorders. A Wilms tumor 1 gene syndrome caused by various point mutation(s) affecting the zinc finger(s) of the Wilms tumor protein. This syndrome is characterized by congenital nephropathy (diffuse mesangial sclerosis), gonadal dysgenesis resulting in atypical genital and reproductive tract development in male infants, and high risk for development of Wilms tumor, an embryonal neoplasm defined by the presence of epithelial, mesenchymal, and blastema components. C28193 Syndrome C90259 NICHD Terminology C84669 Dextrocardia Dextrocardia A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects. C95834 Congenital Heart Disease C90259 NICHD Terminology C84673 Dilated Cardiomyopathy Dilated Cardiomyopathy Congestive Cardiomyopathy Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure. C34830 Cardiomyopathy C90259 NICHD Terminology C84676 Donohue Syndrome Donohue Syndrome A rare autosomal recessive genetic disorder caused by mutations in the insulin receptor gene. Signs and symptoms include a characteristic facial appearance (protuberant and low-set ears, thick lips, and flaring nostrils), intrauterine growth retardation, insulin resistance, and enlarged genitalia. An autosomal recessive condition caused by mutation(s) in the INSR gene encoding the insulin receptor, and characterized by the following: insulin resistance; prenatal growth restriction and small for gestational age birth; small, elfin-like facies with protuberant ears; postnatal failure to thrive; relatively large hands, feet, and genitalia; muscle atrophy; and hypertrichosis. The condition is typically diagnosed early in life, with death usually occurring before age two years. The symptoms and course of this syndrome are the most severe as compared to the other two syndromes on the spectrum: Insulin Resistant Diabetes Mellitus with Acanthosis Nigerians and Hyperandrogenism and Rapson-Mendenhall Syndrome. C28193 Syndrome C90259 NICHD Terminology Leprechaunism C84677 Dracunculiasis Dracunculiasis Guinea Worm Disease A parasitic infection caused by Dracunculus medinensis. It is caused by drinking water contaminated with water fleas. The larvae enter the body through the intestine. Signs and symptoms include pain, edema, blisters, and ulcers. An infection that is caused by Dracunculus medinensis, which is acquired by drinking water contaminated with infected copepods. The larvae enter the body through the intestine. Signs and symptoms include pain, edema, blisters, and ulcers, with the adult female worm potentially emerging from the skin over time. C27864 Parasitic Infection C90259 NICHD Terminology C84679 Dystrophia Myotonica 1 Myotonic Dystrophy 1 Steinert Disease || Steinert Myotonic Dystrophy Syndrome || Steinert Syndrome A rare autosomal dominant disorder caused by mutations in the DMPK gene. It is characterized by myotonia, muscular dystrophy, hypogonadism, heart conduction defects and cataracts. An autosomal dominant condition caused by heterozygous trinucleotide repeat expansion(s) (CTG)n in the 3-prime untranslated region of the DMPK gene, encoding myotonin-protein kinase. The clinical features of this heterogenous condition may include myotonia, muscular dystrophy, cataracts, hypergonadotropic hypogonadism, adrenal insufficiency, diabetes, frontal balding, and electrocardiographic changes. C84914 Myotonic Dystrophy C90259 NICHD Terminology C84680 Dystrophia Myotonica 2 Myotonic Dystrophy 2 Ricker Syndrome A rare autosomal dominant disorder caused by mutations in the CNBP gene. It is characterized by muscle pain, fatigue, and weakness of the proximal muscles of the lower extremities. An autosomal dominant condition caused by heterozygous tetranucleotide repeat expansion(s) (CCTG)n in intron 1 of the CNBP gene, encoding cellular nucleic acid-binding protein. The clinical features of this heterogenous condition may include myotonia, muscular dystrophy, cataracts, hypergonadotropic hypogonadism, adrenal insufficiency, diabetes, frontal balding, and electrocardiographic changes. Myotonic dystrophy 2 is rarer and usually manifests with less severe symptoms than myotonic dystrophy 1. C84914 Myotonic Dystrophy C90259 NICHD Terminology C84681 Ebstein Anomaly Ebstein Anomaly Ebstein's Anomaly of Tricuspid Valve A rare congenital heart malformation characterized by apical displacement of the opening of the tricuspid valve. The defect involves both the right ventricle and the tricuspid valve, and can lead to cardiomyopathy and tachyarrhythmias. C95834 Congenital Heart Disease C90259 NICHD Terminology C84682 Echinococcosis Echinococcosis A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock. An infection that is caused by tapeworm larvae of Echinococcus. It is characterized by the formation of hydatid cysts, mainly in the liver, lungs, spleen, and kidneys. C27864 Parasitic Infection C35803 Zoonotic Infection C90259 NICHD Terminology C84683 Ectodermal Dysplasia Ectodermal Dysplasia A group of inherited disorders characterized by malformations of the structures that derive from the ectoderm, such as hair, teeth, nails and sweat glands. C3101 Genetic Disorder C90259 NICHD Terminology C84684 Ellis-Van Creveld Syndrome Chondroectodermal Dysplasia A rare autosomal recessive syndrome caused by mutations in the EVC gene. It is characterized by dwarfism, small chest, ectodermal dysplasia, and postaxial polydactyly. There is an increased frequency of congenital heart malformations. C3101 Genetic Disorder C90259 NICHD Terminology C84686 Empty Sella Syndrome Empty Sella Syndrome Empty Sella A syndrome characterized by flattening or regression of the pituitary gland within the sella turcica cavity, resulting in an MRI image of an empty sella turcica. Signs and symptoms are secondary to pituitary gland hypofunction. A condition in which the pituitary gland is displaced or absent from the Sella Turkic (pituitary fossa), which appears empty on radiographic examination. Individuals may be asymptomatic or deficient in one or more pituitary hormones. C28193 Syndrome C90259 NICHD Terminology C84687 Encephalocele Encephalocele A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used. C84923 Neural Tube Defect C90259 NICHD Terminology C84688 Endemic Typhus Fever Endemic Typhus Endemic Flea-Borne Typhus A bacterial infection caused by Rickettsia typhi or Rickettsia felis. It is transmitted to humans from infected rat fleas. Symptoms include fever, headache, joint and muscle pain, and weakness. An infection that is caused by Rickettsia typhi or Rickettsia felis, which is transmitted to humans from infected rat fleas; symptoms include fever, headache, joint and muscle pain, and weakness. C35803 Zoonotic Infection C2890 Bacterial Infection C90259 NICHD Terminology C84689 Epidemic Louse-Borne Typhus Epidemic Typhus Epidemic Louse-Borne Typhus A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis. An infection that is caused by Rickettsia prowazekii, which is transmitted to humans from infected lice; manifestations include sudden headache, generalized muscle pain, malaise, macular skin lesions, and encephalitis. C35803 Zoonotic Infection C2890 Bacterial Infection C90259 NICHD Terminology C84690 Epidermolysis Bullosa Acquisita Epidermolysis Bullosa Aquisita A chronic autoimmune inflammatory disorder characterized by the formation of subepidermal blisters in the skin and the mucous membranes. An acquired blistering disease of the skin that has the clinical and pathologic findings similar to the group of inherited disorders called "Epidermolysis Bullosa", which are characterized by recurrent blisters from abnormal or absent essential components of the basement membrane zone or epidermal cell layer. C3371 Skin Disorder C90259 NICHD Terminology C84695 Erythema Infectiosum Erythema Infectiosum Fifth Disease A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern. An infection that is caused by parvovirus B19; it is characterized by the development of bright red cheeks ("slapped cheeks"), which is followed by a skin eruption in the extremities that often has a lacy pattern. C3439 Viral Infection C90259 NICHD Terminology C84701 Fabry Disease Fabry Disease Fabry's Disease A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure. An X-linked lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A, which results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure. C61250 Lysosomal Storage Disorder C90259 NICHD Terminology C84705 Hereditary Factor XI Deficiency Hereditary Factor XI Deficiency Disease A rare inherited bleeding disorder caused by deficiency of coagulation factor XI. It may be asymptomatic or manifest with bleeding. An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood. C98942 Hereditary Coagulation Factor Deficiency C3093 Hemophilia C90259 NICHD Terminology C84707 Familial Mediterranean Fever Familial Mediterranean Fever FMF A usually autosomal recessive inherited inflammatory disorder caused by mutations in the MEFV gene. It is characterized by recurrent painful inflammatory attacks in the abdomen, joints, and chest. The inflammatory attacks are associated with fever. An autoinflammatory disease caused by MEFV gene mutations resulting in enhanced IL-1 beta production. This results in attacks of fever, rash, peritoneal, pleural, or pericardial serositis, and/or synovial inflammation along with increased acute phase reactants. Complications may include vasculitis or amyloidosis. C3101 Genetic Disorder C2889 Autoimmune Disease C90259 NICHD Terminology C84708 Familial Partial Lipodystrophy Congenital Partial Lipodystrophy Familial Partial Lipodystrophy An autosomal dominant inherited disorder that appears in childhood or adolescence. It is characterized by loss of adipose tissue in the extremities and accumulation of adipose tissue in the face and neck. Partial lipodystrophy, the cause of which is present at birth. Several sub-types of congenital/familial partial lipodystrophy with varying phenotype have been identified. Genes associated with this condition include the LMNA gene, encoding nuclear laminins A and C; the PPARG gene, encoding peroxisome proliferator-activated receptor gamma; the AKT2 gene, encoding RAC-beta serine/threonine-protein kinase, and the PLIN1 gene, encoding perilipin 1. C97093 Lipodystrophy C90259 NICHD Terminology C84713 Fetal Alcohol Syndrome Fetal Alcohol Syndrome A teratogenic disorder observed in a newborn or child of a mother who consumed alcohol during pregnancy. Manifestations of the syndrome include low birth weight, atypical facies, microcephaly, failure to thrive, developmental defects, organ dysfunction, mental deficiencies, poor motor coordination and behavioral problems. A teratogenic disorder observed in a newborn or child of a mother who consumed alcohol during pregnancy. Manifestations of the syndrome include low birth weight, atypical facies, microcephaly, failure to thrive, developmental defects, organ dysfunction, mental deficiencies, poor motor coordination and behavioral problems. C92780 Fetal Alcohol Spectrum Disorder C90259 NICHD Terminology C84717 Fragile X Syndrome Fragile X Syndrome A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities. An X-linked dominant syndrome caused by expansion of the CGG triplets in the 5' promoter region of the FMR1 gene to over 200 copies. This expansion becomes hypermethylated, silencing the FMR1 gene expression, and subsequently completely inhibiting the expression of the fragile X mental retardation protein 1 (FMRP). The condition is characterized by a variety of developmental, emotional, behavioral, and physical symptoms, including learning disabilities and macroorchidism. Intermediate expansion of the CGG triplet (between 55 and 200 repeats) may be associated with a milder phenotype due to reduced expression of FMRP. C28193 Syndrome C90259 NICHD Terminology C84720 Hereditary Fructose Intolerance Hereditary Fructose Intolerance Fructose-1,6-Bisphosphate Aldolase B Deficiency A genetic disorder characterized by the absence of the enzyme aldolase-B from the liver. This enzyme is essential for the metabolism of fructose. Signs and symptoms from fructose ingestion are evident in infancy and include vomiting, abdominal pain and hypoglycemia. Long term complications include hepatic and renal failure. C3101 Genetic Disorder C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C84723 Galactosemia Galactosemia An autosomal recessive inherited metabolic disorder caused by mutations in the GALE, GALK1, and GALT genes. It is characterized by deficiency of the enzymes responsible for the metabolism of galactose. Signs and symptoms include intellectual disability, hepatomegaly, hepatic failure, and renal failure. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C84725 Gastroschisis Gastroschisis A congenital birth defect characterized by the exposure of the fetal intestines outside the abdominal wall through an abdominal wall opening. C97171 Congenital Gastrointestinal Disorder C90259 NICHD Terminology C84730 Gitelman Syndrome Gitelman Syndrome An inherited disorder caused by mutations in the SLC12A3 gene. It is characterized by deficient reabsorption of electrolytes in the distal convoluted tubules of the kidneys. It results in hypochloremic metabolic alkalosis, hypokalemia, hypocalciuria, and hypomagnesemia. An inherited disorder caused by mutations in the SLC12A3 gene, characterized by deficient reabsorption of electrolytes in the distal convoluted tubules of the kidneys. It results in hypochloremic metabolic alkalosis, hypokalemia, hypocalciuria, and hypomagnesemia. C28193 Syndrome C90259 NICHD Terminology C84740 Goldenhar Syndrome Goldenhar Syndrome A congenital birth defect characterized by incomplete development or absence of face structures, usually affecting one side of the face. The defects include partially formed or absent ear, nose, lip, mandible, and/or soft palate. C97151 Congenital Systemic Disorder C90259 NICHD Terminology C84741 Gray Platelet Syndrome Gray Platelet Syndrome Grey Platelet Syndrome A rare inherited bleeding disorder characterized by the decrease or absence of the platelet alpha-granules and their proteins in the peripheral blood platelets. A rare, inherited bleeding disorder characterized by the decrease or absence of the platelet alpha-granules and their proteins in the peripheral blood platelets. C131634 Platelet Abnormality C28193 Syndrome C90259 NICHD Terminology C84742 Transposition of Great Vessels Transposition of Great Vessels A congenital cardiac defect in which two heart vessels are reversed (transposed). C99137 Great Vessels Abnormality C90259 NICHD Terminology C84747 Hantavirus Pulmonary Syndrome Hantavirus Pulmonary Syndrome An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems. An infection that is caused by a wide variety of new world Hantaviruses, which is transmitted after contact with infected rodents; it manifests with flu-like symptoms that rapidly progress to pneumonia and acute respiratory distress syndrome. C35803 Zoonotic Infection C3439 Viral Infection C90259 NICHD Terminology C84748 Hartnup Disease Hartnup Disease An autosomal recessive inherited metabolic disorder caused by mutations in the SLC6A19 gene. It is characterized by defective absorption of neutral amino acids. Signs and symptoms include skin eruptions reminiscent of pellagra, aminoaciduria, and cerebellar ataxia. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C84749 Newborn Examination Newborn Examination A general assessment of the overall health of a newborn. A general assessment of the overall health of a newborn. C90341 Pediatric Intervention or Procedure C90259 NICHD Terminology C84750 HELLP Syndrome HELLP Syndrome Hemolysis-Elevated Liver Enzymes-Low Platelet Count Syndrome Severe preeclampsia associated with any of the following findings: thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances. Severe preeclampsia associated with any of the following findings: thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances. C85021 Preeclampsia C90259 NICHD Terminology C84765 Homocystinuria Homocystinuria An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems. C97090 Amino Acid Metabolism Disorder C90259 NICHD Terminology C84767 Hydrops Fetalis Hydrops Fetalis A condition characterized by fluid accumulation in two or more anatomic compartments in the fetus. A condition characterized by fluid accumulation in two or more anatomic compartments in the fetus. C92719 Fetal Disorder C90259 NICHD Terminology C84770 Hyperhomocysteinemia Hyperhomocysteinemia A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents. Abnormally high level of homocysteine in the blood. C36292 Laboratory Test Result C90259 NICHD Terminology C84776 Ichthyosis Ichthyosis A group of inherited or acquired skin disorders characterized by a dry, thickened, and scaly skin. The skin changes range from mild to severe. C3371 Skin Disorder C90259 NICHD Terminology C84784 Imperforate Anus Imperforate Anus Anal Atresia A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities. C97171 Congenital Gastrointestinal Disorder C90259 NICHD Terminology C84785 Urea Cycle Metabolism Disorder Urea Cycle Metabolism Disorder Disorder of Urea Cycle Metabolism A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C84786 Inclusion Body Myositis Inclusion Body Myositis An acquired or hereditary chronic inflammatory disorder of the muscles characterized by the morphologic finding of vacuoles and filamentous inclusions in the muscle tissues. A rare form of progressive muscle disease that is notable for cytoplasmic granules and vacuoles in the muscle with little inflammation, and is usually refractory to treatment. Usually symptoms begin after the age of fifty. C27578 Myositis C90259 NICHD Terminology C84787 Incontinentia Pigmenti Incontinentia Pigmenti Incontinentia Pigmenti Syndrome A rare disorder caused by mutations in the IKBKG gene. It is characterized by skin abnormalities, alopecia, dystrophic nails, and abnormal tooth shape. The skin changes evolve from an initial blistering rash, to wart-like lesions, and eventually to hypopigmentation. C97174 Congenital Skin Disorder C3101 Genetic Disorder C90259 NICHD Terminology C84788 West Syndrome West Syndrome A rare autosomal recessive inherited neurodegenerative disorder caused by mutations in the PLA2G6 gene. It is characterized by the development of swellings called spheroids along the axons of the central nervous system. Signs and symptoms appear early in life and include movement difficulties, muscle hypotonia and spasticity, and cognitive dysfunction. A form of epilepsy presenting in the first years of life that is characterized by infantile spasms; a distinct high-voltage and disorganized electroencephalogram pattern called hypsarrhythmia; and cognitive dysfunction. C26835 Nervous System Disorder C3020 Epilepsy C90259 NICHD Terminology C84798 Kearns-Sayre Syndrome Kearns-Sayre Syndrome A rare mitochondrial myopathy characterized by a progressive limitation of eye movements, leading to immobility and eye drop. It may be associated with muscle weakness, heart block, hearing loss, ataxia and short stature. A genetically heterogenous condition caused by various deletions of mitochondrial DNA. The condition is characterized by myopathy, with "ragged red" fibers on histopathology of muscle biopsy, progressive external ophthalmoplegia, pigmentary retinopathy, cardiac conduction defects, ataxia, cognitive impairment, and diabetes mellitus. C28193 Syndrome C90259 NICHD Terminology C84799 Kernicterus Kernicterus Bilirubin Encephalopathy A rare neurologic disorder occurring in infants with jaundice. It results from brain damage by existing high levels of unconjugated-indirect bilirubin. A condition characterized by sensorineural hearing impairment, choreoathetoid movements, paralysis of upward gaze and hypoplasia of dental enamel due bilirubin deposition in the grey matter of the central nervous system as a consequence of increased levels of unconjugated bilirubin in the serum. C26920 Encephalopathy C90259 NICHD Terminology C84801 Klippel-Trenaunay-Weber Syndrome Klippel-Trenaunay-Weber Syndrome A rare syndrome characterized by the presence of port-wine stain (a vascular malformation), varicose veins, and hypertrophy of the soft tissues and bones in an extremity. It usually affects one extremity, most commonly a leg. C3101 Genetic Disorder C90259 NICHD Terminology C84814 Leigh Disease Leigh Disease Leigh's Disease An inherited disorder affecting the nervous system, caused by genetic mutations in the mitochondrial DNA or deficiency of pyruvate dehydrogenase. Signs and symptoms appear in infancy and include loss of the motor abilities, poor sucking abilities, irritability, lack of muscle tone, and seizures. C2934 Central Nervous System Disorder C90259 NICHD Terminology C84816 Lennox-Gastaut Syndrome Lennox-Gastaut Syndrome A syndrome characterized by frequent episodes of epilepsy during childhood. The epileptic episodes may be tonic, atonic, myoclonic, or absence seizures. It may be accompanied by mental retardation and behavioral problems. A severe form of childhood epilepsy that is characterized by frequent seizures of multiple types, a distinct electroencephalogram pattern consisting of slow spike-waves between seizures, behavioral disturbances, and cognitive dysfunction. C3020 Epilepsy C90259 NICHD Terminology C84820 LEOPARD Syndrome LEOPARD Syndrome Lentigines, Electrocardiographic Conduction Defects, 0cular Hypertelorism, Pulmonary Stenosis, Abnormalities of the Genitals, Retarded Growth, Deafness || Multiple Lentigines Syndrome A genetic syndrome caused by mutations in the PTPN11 and RAF1 genes. It is characterized by the following abnormalities: multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities in genitalia, growth retardation, and deafness. A genetic syndrome caused by mutation(s) in the PTPN11, RAF1, or the BRAF genes, encoding tyrosine-protein phosphatase non-receptor type 11 and RAF proto-oncogene serine/threonine-protein kinase, and serine/threonine-protein kinase B-raf, respectively. Affected male individuals may exhibit unilateral or bilateral cryptorchidism, small penis, and/or hypospadias (urinary meatus on the dorsal side of the penis). Affected female individuals may have ovarian hypoplasia or agenesis. Primary hypogonadism in both female and male individuals may result in delayed puberty. C28193 Syndrome C90259 NICHD Terminology C84824 Leprosy Leprosy Hansen Disease A bacterial granulomatous infection caused by Mycobacterium leprae. It is a progressive disease affecting the skin, peripheral nerves, and limbs. If untreated, it causes permanent tissue damage leading to autoamputations. An infection predominantly that is caused by Mycobacterium leprae, which causes a progressive disease affecting the skin, peripheral nerves, and limbs. If untreated, it usually causes permanent tissue damage leading to autoamputations. C35803 Zoonotic Infection C2890 Bacterial Infection C90259 NICHD Terminology C84827 Liddle Syndrome Liddle Syndrome An autosomal dominant inherited syndrome caused by dysregulation of the amiloride-sensitive sodium channel. It is characterized by early onset hypertension, hypokalemia, metabolic alkalosis, low plasma renin and hypoaldosteronism. An autosomal dominant syndrome caused by dysregulation of the amiloride-sensitive sodium channel, which is characterized by early onset hypertension, hypokalemia, metabolic alkalosis, low plasma renin, and hypoaldosteronism. C28193 Syndrome C90259 NICHD Terminology C84869 Malignant Hyperthermia Syndrome Malignant Hyperthermia Malignant Hyperpyrexia A rare disorder characterized by rapid rise of the body temperature, accompanied by rhabdomyolysis and, if untreated, by collapse and death. It occurs in susceptible individuals who receive certain drugs for general anesthesia, gas anesthetics, or succinylcholine. It may be inherited in an autosomal dominant pattern. A rare drug reaction characterized by a rapid rise of the body temperature and rhabdomyolysis. C9229 Systemic Disorder C90259 NICHD Terminology C84883 Marburg Virus Disease Marburg Hemorrhagic Fever A viral infectious disorder caused by Marburg virus. Signs and symptoms include fever, headache, myalgias, chest and abdominal pain, jaundice, liver failure, massive hemorrhaging, and multiple organ failure. A viral hemorrhagic fever that is caused by the Marburg virus, which is transmitted by contact with infected animals and humans; it is characterized by maculopapular rash, early and late organ phases, and high mortality. C36170 Viral Hemorrhagic Fever C35803 Zoonotic Infection C90259 NICHD Terminology C84885 MELAS Syndrome Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke MELAS A rare progressive neurodegenerative disorder characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. A maternally inherited condition characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, caused by mutation(s) in one of several mitochondrial genes, most frequently the MT-TL1 gene, which encodes the mitochondrial transfer RNA for leucine. C28193 Syndrome C90259 NICHD Terminology C84890 Mevalonate Kinase Deficiency Mevalonate Kinase Deficiency HIDS || Hyperimmunoglobulin D with Periodic Fever Syndrome || MKD A very rare autosomal recessive disorder of cholesterol biosynthesis. It is caused by a deficiency of the enzyme mevalonate kinase, resulting in the accumulation of mevalonic acid in the urine. Signs and symptoms include psychomotor retardation, ataxia, recurrent fevers, skin rash, hepatosplenomegaly, and lymphadenopathy. An autoinflammatory disease caused by mutations in the mevalonate kinase (MVK) gene leading to partial deficiency. It is characterized by attacks of inflammation with fever, rash, lymphadenopathy, splenomegaly and serositis along with increased acute phase reactants. Some patients exhibit elevations in immunoglobulin D (hyperimmunoglobulin D). This disease is distinct from mevalonic aciduria caused by complete deficiency of MVK. C3101 Genetic Disorder C2889 Autoimmune Disease C90259 NICHD Terminology C84891 Microsporidiosis Microsporidiosis Microsporidia Infection A fungal infection caused by Microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting. An infection that is caused by a group of spore-forming organisms, which have been re-classified from protozoa to fungi. The infection occurs predominantly in immunocompromised patients; common sites of infection include the cornea, GI tract, and disseminated sites. C3245 Fungal Infection C90259 NICHD Terminology C84892 Mixed Connective Tissue Disease Mixed Connective Tissue Disease MCTD An autoimmune overlap syndrome characterized by the presence of symptoms of systemic lupus erythematosus, systemic scleroderma, and polymyositis. An autoimmune disorder which is associated with high titer anti-RNP antibody, and usually features Raynaud's Phenomenon and swollen fingers. C2889 Autoimmune Disease C90259 NICHD Terminology C84893 Mobius Syndrome Mobius Syndrome Oromandibular-Limb Hypogenesis Spectrum A very rare congenital syndrome affecting the sixth and seventh cranial nerves. It is characterized by facial paralysis leading to lack of facial expression and the inability to move the eyes laterally. C3101 Genetic Disorder C90259 NICHD Terminology C84906 Mulibrey Nanism Mulibrey Nanism An autosomal recessive inherited disorder caused by mutations in the TRIM37 gene. It is characterized by marked growth retardation and abnormalities in multiple organs including heart, liver, muscle, eyes, and brain. An autosomal recessive disorder caused by mutation(s) in the TRIM37 gene, encoding E3 ubiquitin-protein ligase TRIM37. Mulibrey is a contraction of muscle, liver, brain, and eyes. "Nanism" is a synonym for "dwarfism". This condition is associated with characteristic facial features, including hypertelorism, pubertal delay, occasional progressive cardiomyopathy, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor. C28193 Syndrome C90259 NICHD Terminology C84907 Multiple Acyl-CoA Dehydrogenase Deficiency Glutaric Aciduria, Type 2 A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, or ETFDH genes. It is characterized by deficiency of either electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETFDH). Clinical presentations include congenital abnormalities (brain and facial malformations), hypotonia, dilated cardiomyopathy, hepatomegaly, metabolic acidosis, hypoglycemia, and behavioral changes. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C84910 Muscular Dystrophy Muscular Dystrophy A group of inherited progressive muscle disorders characterized by muscle weakness and eventual death of the muscle tissues. Examples include Duchenne muscular dystrophy, Becker's muscular dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, and limb-girdle muscular dystrophy. C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C84913 Myotonic Disorder Myotonic Disorder An inherited or acquired, localized or generalized disorder affecting the muscles. It may be associated with abnormalities in the chloride or sodium channels of the muscles. It is characterized by delayed muscle relaxation following stimulation or contraction. Representative examples include myotonia congenita and myotonic dystrophy. C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C84914 Myotonic Dystrophy Myotonic Dystrophy An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies. C84913 Myotonic Disorder C90259 NICHD Terminology C84915 Necrotizing Enterocolitis Necrotizing Enterocolitis NEC || Necrotizing Enterocolitis in Fetus or Newborn A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract. A disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis. C98996 Neonatal Disorder C90259 NICHD Terminology C84916 Necrotizing Fasciitis Necrotizing Fasciitis Infection of the deep skin and subcutaneous tissues and necrosis of the fascia. It is caused by bacteria including group A streptococcus, Staphylococcus aureus and Clostridium perfringens. It may develop following trauma and invasive procedures. Infection and necrosis of the fascia and adjoining tissues. C26726 Infectious Disorder C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C84918 Nephrocalcinosis Nephrocalcinosis Deposition of calcium in the renal parenchyma, resulting from high levels of calcium in the blood and/or urine. Calcium deposition in the renal parenchyma. C3149 Kidney Disease C90259 NICHD Terminology C84919 Nephrogenic Diabetes Insipidus Nephrogenic Diabetes Insipidus Diabetes insipidus caused by insensitivity of the kidneys to antidiuretic hormone. Diabetes insipidus caused by insensitivity of the kidneys to antidiuretic hormone (vasopressin), which is caused by mutation(s) in the AVPR2 gene, encoding the vasopressin V2 receptor (antidiuretic hormone receptor), or by mutation(s) in the AQP2 gene, encoding aquaporin-2. Inheritance may by X-linked (AVPR2) or autosomal dominant or recessive (AQP2). C43263 Diabetes Insipidus C90259 NICHD Terminology C84923 Neural Tube Defect Neural Tube Defect A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida. C97172 Congenital Nervous System Disorder C90259 NICHD Terminology C84932 Neurocysticercosis Neurocysticercosis A parasitic infection with tapeworms of the genus Taenia affecting the brain. It is manifested with seizures and headaches. A central nervous system infection that results from the inactive parenchymal or ventricular stage of Taenia solium. While many infections are asymptomatic, seizures are the most common symptom. C34520 Cysticercosis C26835 Nervous System Disorder C90259 NICHD Terminology C84933 Neurogenic Diabetes Insipidus Central Diabetes Insipidus ADH Deficiency || AVP deficiency || Antidiuretic Hormone Deficiency || Arginine Vasopressin Deficiency || Neurogenic Diabetes Insipidus || Vasopressin Deficiency Diabetes insipidus caused by decreased secretion of antidiuretic hormone from the pituitary gland. Diabetes insipidus caused by a decrease in the secretion of antidiuretic hormone (vasopressin) from the posterior pituitary gland; causes include autoimmune and/or inflammatory conditions, congenital anomalies of the central nervous system and pituitary gland, mutation(s) of the AVP gene, irradiation to the region, neoplasia, surgery, and trauma. C43263 Diabetes Insipidus C90259 NICHD Terminology C84935 Neurosyphilis Neurosyphilis Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia. Infection of the brain or spinal cord by Treponema pallidum; it most commonly occurs in the tertiary stage but may occur at any stage. C35055 Syphilis C26835 Nervous System Disorder C90259 NICHD Terminology C84937 Glycine Encephalopathy Glycine Encephalopathy Non-Ketotic Hyperglycinemia An autosomal recessive metabolic disorder caused by mutations in the AMT and GLDC genes. It is characterized by abnormal accumulation of glycine in the brain and other tissues. Signs and symptoms include lethargy, feeding difficulties, hypotonia, intellectual deformities, and seizures. C97090 Amino Acid Metabolism Disorder C26920 Encephalopathy C90259 NICHD Terminology C84940 Oculocerebrorenal Syndrome Oculocerebrorenal Syndrome Lowe Syndrome An X-linked inherited multisystem metabolic disorder caused by mutations in the OCRL1 gene. The main manifestations of this disorder result from involvement of the eyes, nervous system and kidneys. Signs and symptoms include congenital cataracts, infantile glaucoma, intellectual disability, hypotonia, aminoaciduria and renal tubular dysfunction. An X-linked, multisystem, metabolic disorder caused by mutations in the OCRL1 gene, the primary manifestations of which result from involvement of the eyes, nervous system and kidneys, and include congenital cataracts, infantile glaucoma, intellectual disability, hypotonia, aminoaciduria, and renal tubular dysfunction. C3101 Genetic Disorder C90259 NICHD Terminology C84950 Optic Neuritis Optic Neuritis A disorder characterized by inflammation of the optic nerve. Causes include autoimmune disorders, infections, toxins, drugs, and multiple sclerosis. It may manifest with acute loss of vision and pain. Inflammation of the optic nerve. C26767 Eye Disorder C90259 NICHD Terminology C84957 Ornithine Carbamoyltransferase Deficiency Disease Ornithine Carbamoyltransferase Deficiency Disease Ornithine Carbamoyltransferase Deficiency An X-linked urea cycle metabolic disorder characterized by deficiency of ornithine carbamoyltransferase, resulting in the accumulation of amino acids and ammonia in the serum. Signs and symptoms include seizures, delayed growth, behavioral changes, ataxia, lethargy, and coma. C84785 Urea Cycle Metabolism Disorder C90259 NICHD Terminology C84970 Orthostatic Hypotension Orthostatic Hypotension Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up. A sudden fall in blood pressure upon rising to a standing position. C3128 Hypotension C90259 NICHD Terminology C84978 Osteochondrodysplasia Osteochondrodysplasia Congenital Skeletal Dysplasia || Skeletal Dysplasia A term referring to disorders characterized by abnormalities in the development of bones and cartilage. Abnormalities in development and growth of bone and cartilage. C89337 Congenital Musculoskeletal Defect C90259 NICHD Terminology C84987 Pallister-Hall Syndrome Pallister-Hall Syndrome Ano-cerebro-digital Syndrome || Hypothalamic Hamartoblastoma Syndrome A very rare autosomal dominant inherited disorder caused by mutations in the GLI3 gene. It is characterized by a spectrum of abnormalities which include polydactyly, cutaneous syndactyly, bifid epiglottis, hypothalamic hamartoma, and laryngotracheal cleft. A syndrome caused by dominant negative mutations in the GLI3 gene, encoding the transcriptional activator GLI3. The condition is characterized by a spectrum of clinical features including hypothalamic hamartoma, hypopituitarism, bifid epiglottis, laryngotracheal cleft, polydactyly, and cutaneous syndactyly. C28193 Syndrome C90259 NICHD Terminology C84989 Panuveitis Panuveitis A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers. Inflammation of all layers of the uvea. C26909 Uveitis C90259 NICHD Terminology C84995 Paragonimiasis Paragonimiasis A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia. A parasitic infection that is caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food, which results in chronic lung infection and eosinophilia. C27864 Parasitic Infection C35803 Zoonotic Infection C90259 NICHD Terminology C85003 Pemphigoid Gestationis Pemphigoid Gestationis Gestational Pemphigoid || Herpes Gestationis An autoimmune bullous dermatitis that develops during pregnancy, most often during the second and third trimesters. An autoimmune bullous dermatitis that develops during pregnancy, most often during the second and third trimesters. C35169 Pregnancy Disorder C90259 NICHD Terminology C85005 Peroxisomal Disorder Peroxisomal Disorder Disorder of Peroxisomal Function || Peroxisomal Function Disorder A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C85006 Persistent Fetal Circulation Persistent Pulmonary Hypertension of the Newborn PPHN || Persistent Fetal Circulation A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus. A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus. C35729 Congenital Cardiovascular Abnormality C98996 Neonatal Disorder C90259 NICHD Terminology C85010 Pierre Robin Syndrome Pierre Robin Syndrome Pierre Robin Sequence || Robin Sequence A rare congenital malformation characterized by micrognathia, posterior retraction of the tongue, and cleft palate. C3101 Genetic Disorder C90259 NICHD Terminology C85015 Plague Plague A Gram-negative bacterial infection caused by Yersinia pestis. It is usually transmitted to humans from bites of infected rodent fleas. It is manifested as a bubonic, septicemic, or pneumonic plague. In bubonic plague, the lymph nodes adjacent to the site of the skin bite are infected and enlarged. In septicemic plague, the infection spreads directly through the bloodstream. In pneumonic plague, the infection spreads to the lungs either following bubonic plague, or by inhalation of infective droplets. If untreated, it may lead to death. An infection that is caused by Yersinia pestis, which is usually transmitted to humans from infected rodent fleas. It is manifested as a bubonic (lymph node), pneumonic, or septicemic plague. In bubonic plague, the lymph nodes adjacent to the site of the skin bite are infected and enlarged. In pneumonic plague, the infection spreads to the lungs, either following bubonic plague or by inhalation of infective droplets. The term septicemic plague is used when the primary manifestation is a bloodstream infection. C35803 Zoonotic Infection C2890 Bacterial Infection C90259 NICHD Terminology C85017 Poland Syndrome Poland Syndrome Poland Anomaly A rare developmental disorder characterized by underdevelopment or absence of the pectoralis muscle in one side of the chest, usually associated with ipsilateral cutaneous syndactyly, and ipsilateral breast and nipple hypoplasia. C3101 Genetic Disorder C90259 NICHD Terminology C85021 Preeclampsia Preeclampsia A systolic blood pressure of 140 mmHg or higher, or a diastolic blood pressure of 90 mmHg or higher on two occasions at least 4 hours apart (or greater than or equal to 160/110 mmHg within a short interval) after 20 weeks of gestation in a woman with previously normal blood pressure. It may present with proteinuria but if not, it may be associated with thrombocytopenia, impaired liver function, progressive renal insufficiency, pulmonary edema, or new-onset cerebral or visual disturbances. A systolic blood pressure of 140 mmHg or higher, or a diastolic blood pressure of 90 mmHg or higher on two occasions at least 4 hours apart (or greater than or equal to 160/110 mmHg within a short interval) after 20 weeks of gestation in a woman with previously normal blood pressure. It may present with proteinuria but if not, it may be associated with thrombocytopenia, impaired liver function, progressive renal insufficiency, pulmonary edema, or new-onset cerebral or visual disturbances. C4371 Gestational Hypertension C90259 NICHD Terminology C85022 Priapism Priapism Persistent and usually painful erection that lasts for at least four hours in the absence of physical or psychological stimulation, which can be caused by hematologic disorders, including sickle cell disease and leukemia, spinal cord injuries, and medications. Persistent and usually painful erection that lasts for at least four hours, in the absence of physical or psychological stimulation, which can be caused by hematologic disorders, including sickle cell disease and leukemia, spinal cord injuries, and medications. C100104 Sign or Symptom C90259 NICHD Terminology C85030 Propionic Acidemia Propionic Acidemia A rare autosomal inherited organic acid disorder caused by mutations in the PCCA and PCCB genes. It results in the accumulation of harmful organic acids in the blood and urine. Signs and symptoms appear in infancy and include vomiting, poor feeding, loss of appetite, hypotonia, and lethargy. C3101 Genetic Disorder C101334 Organic Acid Metabolism Disorder C90259 NICHD Terminology C85033 Prune Belly Syndrome Prune Belly Syndrome Syndrome of Agenesis of Abdominal Muscles || Triad Syndrome A rare congenital syndrome occurring almost exclusively in males. It is characterized by partial or complete lack of the abdominal wall muscles, enlarged bladder, dilated ureters, hydronephrosis, and undescended testes. A congenital syndrome, occurring almost exclusively in males, characterized by partial or complete absence of the abdominal wall muscles, enlarged bladder, dilated ureters, hydronephrosis, and undescended testes, with or without renal insufficiency. C3101 Genetic Disorder C90259 NICHD Terminology Eagle-Barrett Syndrome C85034 Pseudohypoaldosteronism Pseudohypoaldosteronism An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate. C3009 Endocrine System Disorder C90259 NICHD Terminology C85038 Infant Failure to Thrive Infant Failure to Thrive Failure to Thrive || Failure to Thrive in Infant A clinical finding indicating less than normal growth in infancy. Failing to gain weight as expected demonstrated by not following a normative growth curve, or significant decrease in weight percentile over time. C89330 Developmental Disorder C90259 NICHD Terminology C85040 Pyruvate Carboxylase Deficiency Pyruvate Carboxylase Deficiency A rare autosomal recessive inherited metabolic disorder caused by mutations in the PC gene. It results in the accumulation of lactic acid and other toxic substances in the blood. Signs and symptoms appear early in life and include failure to thrive, mental and growth retardation, motor disturbances, seizures, and lactic acidosis. C3492 Enzyme Deficiency C90259 NICHD Terminology C85042 Complex Regional Pain Syndrome I Complex Regional Pain Syndrome I A neurologic condition characterized by burning pain, tenderness, swelling, and changes in the skin color and temperature of a body part or extremity that has no identifiable nerve injury; most pediatric patients present with this form. A neurologic condition characterized by burning pain, tenderness, swelling, and changes in the skin color and temperature of a body part or extremity that has no identifiable nerve injury; most pediatric patients present with this form. C119048 Pain Amplification Syndrome C90259 NICHD Terminology Reflex Neurovascular Dystrophy || Reflex Sympathetic Dystrophy Syndrome C85047 Rhizomelic Chondrodysplasia Punctata Rhizomelic Chondrodysplasia Punctata Rhizomelic Chondrodysplasia Punctata Syndrome || Rhizomelic Dwarfism An autosomal recessive inherited peroxisomal disorder caused by mutations in the PEX7, DHAPAT, and AGP genes. It is characterized by short limbs, bones and cartilage abnormalities, congenital cataracts, and severe mental retardation. C97075 Hereditary Connective Tissue Disorder C90259 NICHD Terminology C85051 Rubella Infection Rubella German Measles || Rubella Infection A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body. An infection that is caused by the rubella virus; it is characterized by a descending, non-coalescing macular or maculopapular rash and, generally, a mild systemic illness. C3439 Viral Infection C90259 NICHD Terminology Three-Day Measles C85056 Scimitar Syndrome Scimitar Syndrome A rare congenital cardiopulmonary defect characterized by abnormal right-sided pulmonary venous drainage and right lung malformations. C3101 Genetic Disorder C90259 NICHD Terminology C85059 Dental Fluorosis Dental Fluorosis A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel. A condition resulting from excessive fluoride ingestion during tooth development resulting in tooth discoloration ranging from white streaks to brown stains, and possible cracks or pits in the enamel. C35077 Dental Disorder C90259 NICHD Terminology C85063 Septo-Optic Dysplasia Septo-Optic Dysplasia De Morsier syndrome || Septo-Optic Dysplasia Sequence A very rare congenital syndrome characterized by hypoplasia of the optic nerve, impaired vision, absence of the septum pellucidum and hypopituitarism. A genetically heterogenous syndrome that may be caused by mutation(s) in the HESX1, OTX2, and SOX2 genes, encoding homeobox expressed in ES cells 1, homeobox protein OTX2, and transcription factor SOX-2, respectively. Clinical features may include hypoplasia of the optic nerve(s), impaired vision, absence of the septum pellucidum, hypopituitarism, and behavior disturbances. C98999 Optic Nerve Hypoplasia C90259 NICHD Terminology C85064 Severe Acute Respiratory Syndrome Severe Acute Respiratory Syndrome SARS A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death. A viral respiratory infection that is caused by the SARS-associated coronavirus (SARS-CoV), which is transmitted through close person-to-person contact; it manifests with high fever, headache, dry cough, and a high mortality rate. C35803 Zoonotic Infection C3439 Viral Infection C90259 NICHD Terminology C85068 Russell-Silver Syndrome Russell-Silver Syndrome Silver-Russell Syndrome A rare inherited growth disorder characterized by growth retardation, feeding difficulties, failure to thrive, facial abnormalities and asymmetry of limbs. Camptodactyly or clinodactyly may be present. A genetic syndrome characterized by prenatal growth restriction, postnatal failure to thrive, short stature, hypoglycemia, insulin resistance, characteristic "triangular" facial shape, asymmetry of limbs, and camptodactyly or clinodactyly. Many cases are due to DNA hypomethylation of the imprinting control region 1 on chromosome 11p15.5, affecting the imprinting of H19 and IGF2 genes or maternal uniparental disomy of chromosome 7. C3101 Genetic Disorder C89330 Developmental Disorder C90259 NICHD Terminology C85071 Smith-Lemli-Opitz Syndrome Smith-Lemli-Opitz Syndrome A rare, autosomal recessive syndrome caused by mutations in the DHCR7 gene. It is characterized by deficiency of the enzyme 3 beta-hydroxysterol-delta 7-reductase resulting in defects in the cholesterol synthesis. It is manifested with multiple congenital malformations, including facial abnormalities, microcephaly, and syndactyly. Behavioral abnormalities may also be present. An autosomal recessive syndrome caused by mutations in the DHCR7 gene, encoding 7-dehydrocholesterol reductase, the enzyme responsible for the first step of cholesterol synthesis. The enzyme deficiency results in reduced production of steroid hormones and underdevelopment of male genitalia due to androgen deficiency. This condition may also be associated with microcephaly, developmental delay, characteristic facial anomalies, and syndactyly. C3101 Genetic Disorder C90259 NICHD Terminology C85074 Spherocytosis Spherocytosis A hereditary or acquired blood disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes. It results in hemolytic anemia and splenomegaly. C36289 Hematopoietic System Finding C90259 NICHD Terminology C85075 Spinal Muscular Atrophy Spinal Muscular Atrophy An inherited disorder characterized by degeneration of the spinal cord and the cerebellum. Symptoms may appear at any age and include progressive loss of coordination of gait, hands, speech, and eye movements. C97172 Congenital Nervous System Disorder C90259 NICHD Terminology C85079 Status Epilepticus Status Epilepticus A life-threatening situation in which the brain is in a continuous state of seizure. A prolonged seizure, or two or more discrete seizures without complete recovery of consciousness between seizures. C3020 Epilepsy C90259 NICHD Terminology C85171 Subacute Sclerosing Panencephalitis Subacute Sclerosing Panencephalitis SSPE A rare, slowly progressive post-infectious neurological disorder affecting the central nervous system. It is characterized by seizures, ataxia, myoclonus, personality changes, spasticity, and coma. The symptoms appear several years following measles infection at an early age. An encephalitic disorder that occurs following a measles infection. The disease initially manifests as personality changes, and then progresses to muscle spasms and seizures, possibly death. C26760 Encephalitis C90259 NICHD Terminology C85173 Sudden Infant Death Syndrome Sudden Infant Death Syndrome SIDS Unexpected death in infancy which remains unexplained following autopsy, review of the medical history, and investigation of the death circumstances and death scene. The unexpected death of an infant less than 1 year of age that cannot be explained after a thorough investigation is conducted, including a complete autopsy, examination of the death scene, and review of the clinical history. C28554 Death C90259 NICHD Terminology C85176 Supravalvular Aortic Stenosis Supravalvular Aortic Stenosis A rare, congenital or acquired aortic stenosis characterized by localized or diffuse narrowing of the ascending aorta. C99137 Great Vessels Abnormality C90259 NICHD Terminology C85180 Taeniasis Taeniasis A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients may become aware of the infection by noticing segments of the tapeworm in their feces. If symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea. Intestinal infection with a human tapeworm (Taenia saginata, T. solium, T. asiatica), which is acquired by consumption of cysticerci in raw or undercooked food. Most infected people are asymptomatic and typically become aware of an infection via passing tapeworm segments in feces. C27864 Parasitic Infection C35803 Zoonotic Infection C90259 NICHD Terminology C85185 Tetanus Tetanus A serious infectious disorder that follows wound contamination by the Gram-positive bacterium Clostridium tetani. The bacteria produce a neurotoxin called tetanospasmin, which causes muscle spasm in the jaw and other anatomic sites. A disorder that is caused by Clostridium tetani toxin, which is usually acquired from wound contamination. The neurotoxin causes muscle spasm in the jaw and other anatomic sites. C2890 Bacterial Infection C90259 NICHD Terminology C85187 Thanatophoric Dysplasia Thanatophoric Dysplasia A severe autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by multiple skeletal abnormalities, including extremely short limbs. It results in the death of the neonate. C89337 Congenital Musculoskeletal Defect C89330 Developmental Disorder C90259 NICHD Terminology C85189 Thyroglossal Duct Cyst Thyroglossal Duct Cyst A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck. C2978 Cyst C90259 NICHD Terminology C85190 Thyroid Dysgenesis Thyroid Dysgenesis A congenital condition characterized by hypoplasia, absence, or ectopic position of the thyroid gland. It is manifested with congenital hypoparathyroidism. A congenital condition characterized by hypoplasia, absence, or ectopic position of the thyroid gland. C36285 Endocrine System Finding C90259 NICHD Terminology C85191 Thyroid Hormone Resistance Syndrome Thyroid Hormone Resistance Thyroid Hormone Resistance Syndrome A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum. Reduced response to thyroid hormones in the peripheral tissues and/or in the pituitary gland. C28193 Syndrome C90259 NICHD Terminology C85194 Toxocariasis Toxocariasis A parasitic infection caused by Toxocara. Humans are infected by the larvae of Toxocara canis and Toxocara cati from dogs and cats respectively. Most cases remain asymptomatic. The parasites may affect the eye, causing diminished vision, or other major organs, causing hepatomegaly, eosinophilia, wheezing, and coughing. An infection that is caused by the larvae of Toxocara canis (dogs) or Toxocara cati (cats), most cases of which remain asymptomatic. The larvae can infect the eye, causing diminished vision, or other major organs, causing hepatomegaly, eosinophilia, coughing, and wheezing. C27864 Parasitic Infection C35803 Zoonotic Infection C90259 NICHD Terminology C85199 Trichinosis Trichinosis Trichinellosis A parasitic infection caused by larvae of worms of the genus Trichinella. It is transmitted to humans by ingesting raw or undercooked meat from infected animals. Signs and symptoms include abdominal discomfort, nausea, vomiting, fever, diarrhea, headache, coughing, myalgias, arthralgias, and eye swelling. An illness caused by the ingestion of larvae of roundworms of the genus Trichinella. C27864 Parasitic Infection C35803 Zoonotic Infection C90259 NICHD Terminology C85202 Tricuspid Valve Atresia Tricuspid Valve Atresia Congenital Atresia of Tricuspid Valve A congenital heart defect characterized by the complete lack of formation of the tricuspid valve. Cyanosis is the predominant clinical symptom. C95834 Congenital Heart Disease C90259 NICHD Terminology C85204 Triploidy Syndrome Triploidy Syndrome A very rare congenital syndrome characterized by the presence of three haploid sets of chromosomes. The surviving infants have multiple severe birth defects. C2950 Chromosomal Abnormality C90259 NICHD Terminology C85208 Tularemia Tularemia A serious Gram-negative bacterial infection caused by Francisella tularensis. It is transmitted to humans through bites from infected insects, inhaling airborne bacteria, handling infected animals, or consuming contaminated food or water. Signs and symptoms include skin ulcers, mouth sores, lymphadenopathy, sore throat, fever and pneumonia. An infection that is caused by Francisella tularensis, which is transmitted to humans from infected insects, inhaling airborne bacteria, handling infected animals, or consuming contaminated food or water; infection can manifest as fever, sore throat, skin ulcers, mouth sores, lymphadenopathy, or pneumonia. C35803 Zoonotic Infection C2890 Bacterial Infection C90259 NICHD Terminology C85213 von Willebrand Disease, Type 3 von Willebrand Disease, Type 3 The most severe form of von Willebrand disease, inherited in an autosomal recessive pattern. It is characterized by marked deficiency or absence of von Willebrand factor in the plasma and platelets, and low plasma levels of factor VIII. It may cause severe bleeding. The most severe form of von Willebrand disease, it is inherited in an autosomal recessive pattern, and is characterized by marked deficiency or absence of von Willebrand factor in the plasma and platelets, and low plasma levels of factor VIII; it may cause severe bleeding. C68677 von Willebrand Disease C90259 NICHD Terminology C85216 Urachal Cyst Urachal Cyst A cyst that develops from the remnants of the urachus. Since urachal cysts are non-communicating, they are usually asymptomatic unless infected. A cyst within the urachal remnant. C2978 Cyst C90259 NICHD Terminology C85221 Vitamin B6 Deficiency Vitamin B6 Deficiency Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia. C35772 Vitamin Deficiency Disorder C90259 NICHD Terminology C85222 Waardenburg Syndrome Waardenburg Syndrome Waardenburg's Syndrome A rare, autosomal dominant inherited syndrome caused by mutations in the PAX3, MITF, and SNAI2 genes. Signs and symptoms include hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes. C3101 Genetic Disorder C90259 NICHD Terminology C85225 Waterhouse-Friderichsen Syndrome Waterhouse-Friderichsen Syndrome A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency. Catastrophic adrenal insufficiency and acute cardiovascular collapse due to adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis. C28193 Syndrome C90259 NICHD Terminology C85228 Whipple Disease Whipple Disease A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system. An infection that is caused by the Gram-positive bacterium Tropheryma whipplei, which primarily affects the small intestine resulting in malabsorption. C2890 Bacterial Infection C90259 NICHD Terminology C85231 Whooping Cough Whooping Cough Pertussis A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough. A bacterial respiratory infection caused by Bordetella pertussis, which is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough. C26871 Respiratory System Disorder C90259 NICHD Terminology C85232 Williams Syndrome Williams Syndrome Williams-Beuren Syndrome A rare syndrome caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1 and LIMK1 genes. It is characterized by distinctive facial appearance (elfin facies), mild-to-moderate mental retardation, cheerfulness, cardiovascular abnormalities and infantile hypercalcemia. A syndrome caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 genes, and characterized by distinctive facial appearance (elfin facies), mild-to-moderate developmental delay, cheerfulness, cardiovascular dysfunction which may include supravalvular aortic stenosis, and endocrine abnormalities, including precocious puberty, hypothyroidism, and infantile hypercalcemia/ hypercalciuria. C3101 Genetic Disorder C90259 NICHD Terminology C85234 X-Linked Dominant Hypophosphatemic Rickets X-linked Dominant Hypophosphatemic Rickets Hypophosphatemic Vitamin D-resistant Rickets || Vitamin D-resistant Rickets An X-linked dominant disorder caused by mutations in the PHEX gene. It is characterized by growth retardation, osteomalacia, hypophosphatemia, and defects in the renal reabsorption of phosphorus. Hypophosphatemic rickets due to renal phosphate wasting as a result of mutation(s) in the X-chromosomal PHEX gene, encoding phosphate-regulating neutral endopeptidase. This condition is characterized by normal serum calcium, increased serum alkaline phosphatase, low or inappropriately normal concentrations of 1,25-dihydroxyvitamin D (calcitriol), variable short stature, frontal bossing, dental abscesses, tibial bowing, and inflammation of the insertion sites of ligaments and tendons. C26878 Rickets C90259 NICHD Terminology Hereditary 1,25(OH)2D-resistant Rickets || X-linked Hypophosphatemic Rickets C85237 47,XYY Syndrome 47,XYY Syndrome 47,XYY || XYY Syndrome A condition caused by the presence of an extra Y chromosome resulting in 47,XYY karyotype in an individual with male phenotype. The condition is characterized by tall stature, increased risk of learning disabilities, and delayed development of speech and language. Testicular function and size are normal. A condition caused by the presence of an extra Y chromosome resulting in 47,XYY karyotype in an individual with male phenotype. The condition is characterized by tall stature, increased risk of learning disabilities, and delayed development of speech and language. Testicular function and size are normal. C28193 Syndrome C90259 NICHD Terminology C85239 Zellweger Syndrome Zellweger Syndrome A rare group of autosomal recessive inherited disorders characterized by the reduction or absence of peroxisomes in the tissues. Signs and symptoms include increased levels of iron and copper in the blood and tissues, hepatomegaly, facial abnormalities, mental retardation, seizures, and hypotonia. C3101 Genetic Disorder C90259 NICHD Terminology C8578 Childhood Ependymoma Childhood Ependymoma An ependymoma that arises from the central nervous system and occurs during childhood. An ependymoma that occurs during childhood. C115192 Childhood Ependymal Tumor C90259 NICHD Terminology C85874 Microcephaly Microcephaly Microcephalus A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex. C96412 Brain Development Abnormality C90259 NICHD Terminology C8588 Childhood Ovarian Germ Cell Tumor Childhood Ovarian Germ Cell Tumor A germ cell tumor that arises from the ovary and occurs in children. A germ cell tumor that arises from the ovary during childhood. C3873 Ovarian Germ Cell Tumor C114801 Childhood Gonadal Germ Cell Tumor C90259 NICHD Terminology C8591 Testicular Germ Cell Tumor Testicular Germ Cell Tumor A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor. A neoplasm arising from gonadal tissue within the testes. C114801 Childhood Gonadal Germ Cell Tumor C90259 NICHD Terminology C85994 Tuberculin Skin Test Tuberculin Skin Test TST A test to determine if a subject has ever had a tuberculosis infection. A small amount of purified tuberculosis protein is placed under the skin of the forearm and a positive skin reaction indicates previous exposure to Mycobacterium tuberculosis. A test of delayed-type hypersensitivity involving injection into the skin of a small amount of purified protein derivative (PPD). The formation of a specific, defined amount of induration in response to the test suggests the presence of tuberculosis infection. C25294 Laboratory Procedure C90259 NICHD Terminology C85997 Mantoux Tuberculin Skin Test Mantoux Tuberculin Skin Test Mantoux Test A tuberculin skin test where a standard dose of 5 Tuberculin units of purified protein derivative is injected under the skin of the inner surface of the forearm. Results are read 48-72 hours later. A tuberculin skin test in which a standard dose of purified protein derivative is injected under the skin of the inner surface of the forearm. C25294 Laboratory Procedure C90259 NICHD Terminology C8644 B Acute Lymphoblastic Leukemia B Acute Lymphoblastic Leukemia B-ALL The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001) An acute lymphoblastic leukemia of B-lineage origin. C3167 Acute Lymphoblastic Leukemia C90259 NICHD Terminology C86571 Melena Melena Abnormally dark tarry feces containing blood, usually from gastrointestinal bleeding. Abnormally dark tarry feces containing blood, usually due to gastrointestinal bleeding. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C86605 Neisseria meningitidis Neisseria meningitidis A species of aerobic, Gram-negative, diplococci shaped bacteria assigned to the phylum Proteobacteria. This species is catalase and oxidase positive, non-hemolytic, non-pigmented, does not reduce nitrate or nitrite, does not synthesize polysaccharides, grows on blood, chocolate, or Muller-Hinton agar, and produces acid from glucose and maltose but not fructose, sucrose, mannose, or lactose. N. meningitidis, known commonly as meningococcus, is the causative agent of cerebrospinal meningitis, but is also associated with other human infections, but can be commensal in the oropharynx and nasopharynx of carriers. C14187 Bacteria C90259 NICHD Terminology C86949 Parosmia Parosmia An olfactory disturbance where the sense of smell inaccurately conveys disagreeable sensations. Distorted perception of smells. C28246 Dysesthesia C90259 NICHD Terminology C87065 Cyanotic Body Cyanotic Body Blue- or purplish-colored body; this is caused by excessive amounts of deoxygenated hemoglobin in the skin vessels of the body. C26737 Cyanosis C90259 NICHD Terminology C87066 Cyanotic Limbs Cyanotic Limbs Blue- or purplish-colored limbs; this is caused by excessive amounts of deoxygenated hemoglobin in the skin vessels of the limbs. C26737 Cyanosis C90259 NICHD Terminology C87067 Caput Succedaneum Caput Succedaneum A diffuse swelling of the scalp in a newborn, usually caused by the trauma of the scalp pushing through a narrowed cervix during birth. The swelling may extend across the midline of the scalp and may exhibit discoloration or bruising. A diffuse swelling of the scalp in a newborn, usually caused by the trauma of the scalp pushing through a narrowed cervix during birth. The swelling may extend across the midline of the scalp and may exhibit discoloration or bruising. C81236 Birth Complication C90259 NICHD Terminology C87068 Male Circumcision Male Circumcision Circumcision Surgical removal of the penile foreskin. Surgical removal of the penile foreskin. C15329 Surgical Procedure C90259 NICHD Terminology C87069 Cleft Palate Cleft Palate A congenital abnormality consisting of a fissure in the midline of the hard and/or soft palate; it is the result of the failure of the two sides of the palate to fuse during embryonic development. C97171 Congenital Gastrointestinal Disorder C90259 NICHD Terminology C87070 Hypotonia Hypotonia Poor Muscle Tone A condition of decreased tone of the skeletal muscles and diminished resistance to passive stretching. Abnormally low muscle tone. C100104 Sign or Symptom C90259 NICHD Terminology C87071 Ear Dimple Ear Dimple Ear Pit || Periauricular Dimple A pit or dimple in front of the ear of a newborn is a common finding; rarely, such a dimple may get infected, which will be manifested with redness and swelling and will require medical attention. C100104 Sign or Symptom C90259 NICHD Terminology C87072 Esophageal Atresia Esophageal Atresia Congenital Atresia of Esophagus A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed. C97171 Congenital Gastrointestinal Disorder C90259 NICHD Terminology C87073 Excessive Sucking Excessive Sucking A symptom of gastrointestinal dysfunction seen in neonates who have been exposed to drugs during pregnancy; often accompanied by excessive sucking of fists, fingers and thumbs. A symptom seen in neonates who have been exposed to drugs during pregnancy; often accompanied by excessive sucking of fists, fingers and thumbs. C100104 Sign or Symptom C90259 NICHD Terminology C87074 Eye Prophylaxis Eye Prophylaxis The practice of placing antibiotic eye drops or ointment in a neonate's eyes after birth. C49236 Therapeutic Procedure C90259 NICHD Terminology C87076 Frenulum Frenulum A small fold of tissue that limits the movements of an organ or body part; for example, the lingual frenulum connects the tongue to the floor of the mouth and restrains its movement. C32221 Body Part C90259 NICHD Terminology C87077 Congenital Ankyloblepharon Fused Eyelid Congenital Ankyloblepharon A congenital abnormality in which the margins of the upper and lower eyelids are fused together by bands of tissue. A finding in extremely premature newborns in which the normal epithelial adhesions connecting the upper and lower eyelids have not yet degraded. C99208 Eye Finding C90259 NICHD Terminology C87079 General Appearance General Appearance The result of observation and overall assessment of a subject's outward aspect including appearance and movements; for example, in a human newborn general appearance includes skin color and tone, range of motion, and spontaneous movements. C25447 Characteristic C90259 NICHD Terminology C87081 Heart Rhythm Heart Rhythm The recurrent, measured movements (rhythm) of a beating heart. C35552 Cardiovascular System Finding C90259 NICHD Terminology C87083 Heterotaxy Heterotaxy Heterotaxia The abnormal arrangement or position of thoracic and/or abdominal organs in relation to each other, often occurring in a right/left transposition. C97151 Congenital Systemic Disorder C90259 NICHD Terminology C87084 Hyperemesis Gravidarum Hyperemesis Gravidarum Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances. Severe, intractable vomiting during early pregnancy accompanied by hypovolemia, weight loss, and electrolyte imbalances. C34941 Pregnancy Complication C90259 NICHD Terminology C87085 Hypertonia Hypertonia Increased Muscle Tone A condition of increased muscle tone manifested by increased resistance of the muscle to passive stretching. Abnormally high muscle tone. C100104 Sign or Symptom C90259 NICHD Terminology C87087 Intercostal Retractions Intercostal Retractions Intercostal Recession The marked inward movement of the muscles between the ribs during inhalation, indicating that there is reduced pressure in the thoracic cavity, and which can be a sign of breathing difficulties. The marked inward movement of the muscles between the ribs during inhalation, indicating that there is reduced pressure in the thoracic cavity, and which can be a sign of breathing difficulties. C100104 Sign or Symptom C90259 NICHD Terminology C87089 Irregular Respiration Irregular Respiration Irregular Breathing A change from the normal breathing pattern in an infant, child, or adult, in terms of the amplitude and frequency of inhalations and exhalations. C100104 Sign or Symptom C90259 NICHD Terminology C87090 Labial Fusion Labial Fusion Usually found in girls between 6 months and 6 years of age, this condition occurs wherein the labia grow together instead of as 2 separate folds, thereby blocking the opening of the vagina. It is caused by conditions such as repeated diaper rash, urine and stool infections, and sexual abuse. The condition often spontaneously corrects or responds to the application of estrogen cream. C27020 Female Reproductive System Disorder C90259 NICHD Terminology C87092 Large for Gestational Age Large for Gestational Age Large for Dates Baby A fetus or infant who is larger than expected for the age or gender, or who has a birth weight greater than the 90th percentile. An estimated fetal or neonatal weight exceeding 90% of expected weight for gestational age. C92711 Fetal Finding C90259 NICHD Terminology C87093 Meconium Aspiration Syndrome Meconium Aspiration Syndrome A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date. Aspiration of meconium around the time of delivery resulting in severe respiratory distress. C97173 Congenital Respiratory System Disorder C90259 NICHD Terminology C87094 Micrognathism Micrognathism Congenital Micrognathism A congenital abnormality of the jaws (particularly the mandible) in which they are unusually small. This condition is not always pathological and may correct itself as the patient matures; however, it may also present as a birth defect in multiple syndromes. C89337 Congenital Musculoskeletal Defect C90259 NICHD Terminology C87095 Mottling Mottling Skin Mottling Irregularly shaped, patchy discolorations in the skin. Irregularly shaped and discolored patches on the skin. C36281 Integumentary System Finding C100104 Sign or Symptom C90259 NICHD Terminology C87096 Movement of Lip Corners Movement of Lip Corners During examination of the newborn infant, the examiner looks for symmetric movement of the lip corners. Movement of the lip corners is governed by the zygomatic major muscle. C100104 Sign or Symptom C90259 NICHD Terminology C87097 Multiple Gestation Multiple Gestation A pregnancy involving twins or higher-order multiple fetuses (e.g., triplets, quadruplets). A pregnancy involving twins or higher-order multiple fetuses (e.g., triplets, quadruplets). C92720 Pregnancy Finding C90259 NICHD Terminology C87099 Nasal Flaring Nasal Flaring Enlargement of the nostrils during breathing; although there are many possible causes, it can be a sign of respiratory distress in young infants. C100104 Sign or Symptom C90259 NICHD Terminology C87101 Neonatal Abstinence Syndrome Neonatal Abstinence Syndrome NAS A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors. A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors. C101321 Neonatal Drug Withdrawal C90259 NICHD Terminology C87103 Newborn Heart Rate Newborn Heart Rate The number of heartbeats of the newborn per minute; the normal range is 100 - 180 heartbeats per minute. C49677 Heart Rate C90259 NICHD Terminology C87104 Newborn Respiratory Rate Newborn Respiratory Rate The number of inhalations and exhalations of the newborn per minute; the normal range is 30 - 60 breaths per minute. C49678 Respiratory Rate C90259 NICHD Terminology C87105 Newborn Blood Pressure Newborn Blood Pressure The systolic and diastolic blood pressure of the newborn upon examination; the normal range of the systolic blood pressure is 60 - 90, while the normal range of the diastolic blood pressure is 20-60. C118807 Newborn or Infant Finding C90259 NICHD Terminology C87107 Pupils Equal Round and Reactive to Light Pupils Equal Round and Reactive to Light Pupil Equal Round and Reacting to Light || Pupils Equal Round and Reactive to Light Result While performing an assessment of the eyes, the examiner notes whether the pupils are equal, round, and reactive to light. If all findings are normal, the abbreviation PERRL is noted in the examiner's account of the physical examination. C36280 Nervous System Finding C90259 NICHD Terminology C87108 Pupils Equal Round and Reactive to Light and Accommodation Pupils Equal Round and Reactive to Light and Accommodation Pupils Equal Round and Reactive to Light and Accommodation Result While performing an assessment of the eyes, the examiner notes whether the pupils are equal and round, reactive to light, and have the ability to accommodate. If all findings are normal, the abbreviation PERRLA is noted in the examiner's account of the physical examination. C36280 Nervous System Finding C90259 NICHD Terminology C87110 Polydactyly Polydactyly A congenital abnormality characterized by more than 5 digits on a hand or foot. C89337 Congenital Musculoskeletal Defect C90259 NICHD Terminology C87111 Poor Feeding Poor Feeding Occurs either when an infant shows no interest in feeding or when there is an inability to take in adequate nutrition. Poor feeding is a nonspecific symptom of many disorders, including neurological, genetic, structural, metabolic, and infectious diseases. A non-specific symptom characterized by inadequate oral nutritional intake that may be associated with several different disorders. C100104 Sign or Symptom C90259 NICHD Terminology C87113 Premature Rupture of Membrane Premature Rupture of Membranes PROM || Prelabor Rupture of Membranes || Term Premature Rupture of Membranes Spontaneous rupture of fetal membranes that occurs before the onset of labor. If rupture occurs before 37 weeks of gestation then the correct diagnosis is preterm premature rupture of membranes. Spontaneous rupture of fetal membranes that occurs before the onset of labor. If rupture occurs before 37 weeks of gestation then the correct diagnosis is preterm premature rupture of membranes. C34941 Pregnancy Complication C90259 NICHD Terminology C87114 Proptosis Proptosis Abnormal protrusion of one or both eyes from the socket; causes include hyperthyroidism (particularly Graves disease); bleeding behind the eye; infection, inflammation, or tumors of the orbit; and vascular disorders. C99208 Eye Finding C90259 NICHD Terminology C87115 Rhesus Hemolytic Disease of the Newborn Rhesus Hemolytic Disease of the Newborn A disorder caused when there is a Rh-factor blood-type incompatibility between the mother and fetus, and the mother's immune system forms antibodies that attack the red blood cells of her unborn child. This disorder can only occur if the mother is Rh-negative and the fetus is Rh-positive. A condition of the newborn characterized by the destruction of red blood cells initiated by the transmission of antibodies from a mother to the child via the placenta against Rhesus blood group system antigens, which include C, c, D, E, and e. C92719 Fetal Disorder C101304 Hemolytic Disease of the Newborn C90259 NICHD Terminology C87116 Rhonchi Rhonchi An abnormal sound similar to snoring heard on auscultation of the bronchial airways, suggesting a partial obstruction due to thick secretions, a muscular spasm, or a neoplasm. C100104 Sign or Symptom C90259 NICHD Terminology C87118 Sacral Dimple Sacral Sinus Sacral Dimple || Sacral Pit A small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area. A blind-ending, epithelial-lined tract that is located 5-25 mm from the anal verge. C100104 Sign or Symptom C90259 NICHD Terminology C87120 Single Palmar Crease Single Palmar Crease Single Transverse Palmar Crease A single transverse palmar crease is found in 5% of newborns and is frequently inherited as a familial trait. However, single palmar creases can be associated with Down's syndrome and other genetic disorders, or with fetal alcohol syndrome. C100104 Sign or Symptom C90259 NICHD Terminology C87121 Situs Inversus Situs Inversus Situs Ambiguus || Situs Inversus Viscerum A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning). C97151 Congenital Systemic Disorder C90259 NICHD Terminology C87124 Central Nervous System Signs and Symptoms Central Nervous System Signs and Symptoms Signs and symptoms associated with disturbances within the central nervous system, which includes the brain, spinal cord and meninges. C100104 Sign or Symptom C90259 NICHD Terminology C87125 Syndactyly Syndactyly A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly. C89337 Congenital Musculoskeletal Defect C90259 NICHD Terminology C87126 Umbilical Cord Prolapse Umbilical Cord Prolapse Prolapsed Cord A situation in which the umbilical cord is ahead of the presenting fetal part. If the cord becomes compressed it may cut off the flow of blood to the baby. Passage of the umbilical cord through the cervix before the fetus during delivery. C81236 Birth Complication C90259 NICHD Terminology C87127 Vasa Previa Vasa Previa Umbilical blood vessels that have inserted into the amniotic membrane (membranous insertion) that in turn are above or adjacent to the cervical os and are at risk of rupture. Umbilical blood vessels that have inserted into the amniotic membrane (membranous insertion) that in turn are above or adjacent to the cervical os and are at risk of rupture. C81236 Birth Complication C90259 NICHD Terminology C87128 Loose Stool Loose Stool Liquid Stool || Watery Stool Frequent, loose, and watery stools are noted in most infants, even if they are fed formula, until they are six to eight weeks old; after that, the stools become firmer and less frequent. C100104 Sign or Symptom C90259 NICHD Terminology C87129 Weak Breathing Weak Breathing Shallow inhalations and exhalations that indicate respiratory distress. C100104 Sign or Symptom C90259 NICHD Terminology C87130 Pterygium Colli Pterygium Colli Neck Webbing A congenital, usually bilateral, thick web-like fold of skin that extends from the acromion to the mastoid process. This deformity is associated with Turner Syndrome and Noonan Syndrome. C97174 Congenital Skin Disorder C90259 NICHD Terminology C87131 Yawning Yawning An involuntary deep inhalation with the mouth open, often a sign of drowsiness or boredom. C100104 Sign or Symptom C90259 NICHD Terminology C8715 Rhabdoid Tumor of the Kidney Rhabdoid Tumor of the Kidney Renal Rhabdoid Tumor A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor. A rhabdoid tumor that arises in the kidney. C3808 Rhabdoid Tumor C90259 NICHD Terminology C87167 Eclampsia Eclampsia A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures. A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures. C35169 Pregnancy Disorder C90259 NICHD Terminology C87168 Group B Streptococcal Infection Group B Streptococcal Infection Streptococcus agalactiae Infection Group B Streptococcus, also known as Streptococcus agalactiae, colonizes the vaginal and gastrointestinal tracts of up to 45% of healthy women and may infect neonates in utero or during delivery, causing neonatal sepsis in 1-2% of colonized neonates. GBS infection may also occur in nonpregnant (particularly elderly) adults with underlying medical conditions, presenting as urinary tract infection, pneumonia, or soft-tissue infection. Infection of an infant from birth to three months caused by Group B Streptococcus (Streptococcus agalactiae) from a colonized mother. Invasive infections may include sepsis, meningitis, and pneumonia. C2890 Bacterial Infection C90259 NICHD Terminology C87169 High Pitched Cry High Pitched Cry An abnormally shrill or screeching vocalization made by infants that could possibly indicate the presence of one of an array of medical conditions or congenital syndromes. An abnormally shrill or screeching vocalization made by infants that could possibly indicate the presence of one of an array of medical conditions or congenital syndromes. C100104 Sign or Symptom C90259 NICHD Terminology C87175 Cleft Lip Cleft Lip A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse. C97171 Congenital Gastrointestinal Disorder C90259 NICHD Terminology C87497 Fibromyalgia Fibromyalgia Fibromyalgia Syndrome A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation. Chronic, diffuse, non-inflammatory musculoskeletal pain disorder with characteristic tender points of neck, back, shoulders, hips, arms and legs, and associated with fatigue and sleep disturbance. Other symptoms may include headaches, abdominal discomfort, and depression/anxiety. It may also be associated with a primary rheumatic disorder. C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C88411 Obsessive Compulsive Disorder Obsessive Compulsive Disorder Obsessive-Compulsive Disorder A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety. C2878 Anxiety Disorder C90259 NICHD Terminology C88412 Autism Spectrum Disorder Autism Spectrum Disorder Pervasive Developmental Disorders A spectrum of developmental disorders that includes autism, Asperger syndrome, and Rett syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors. Neurodevelopmental disorders presenting in childhood with classic symptoms of impairment in verbal and nonverbal communication, social interactions, and/or imaginative play. C97179 Pervasive Developmental Disorder C90259 NICHD Terminology C88541 Hemihypertrophy Hemihypertrophy Hemi-hypertrophy A finding indicating the presence of greater than normal asymmetry between the right and left sides of the body. The asymmetry may be manifested in the entire side or part of it. C2849 Congenital Malformation C90259 NICHD Terminology C89161 Congenital Amegakaryocytosis Congenital Amegakaryocytosis A rare disorder of infancy characterized by marked reduction or absence of megakaryocytes and thrombocytopenia. A rare disorder of infancy characterized by a marked reduction in, or a complete absence of, megakaryocytes, and thrombocytopenia. C104003 Congenital Hematological Disorder C90259 NICHD Terminology C8923 Acute Erythroid Leukemia Acute Erythroid Leukemia An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001) An acute myeloid leukemia characterized by a predominant immature erythroid population. C3171 Acute Myeloid Leukemia C90259 NICHD Terminology C89328 Pediatric Disorder Pediatric Disorder Pediatric Disease or Disorder A non-neoplastic or neoplastic disorder which occurs during infancy, childhood, or adolescence. C2991 Disease or Disorder C90259 NICHD Terminology C89329 Conduct Disorder Conduct Disorder A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period. C35470 Behavioral Disorder C90259 NICHD Terminology C89330 Developmental Disorder Developmental Disorder A disorder diagnosed in childhood that is marked by either physical or mental impairment or both, which in turn affects the child from achieving age related developmental milestones. C89328 Pediatric Disorder C90259 NICHD Terminology C89331 Early Adolescence Early Adolescence A human life stage that begins at twelve years of age and continues until eighteen complete years of age. This phase marks the start of physical, physiological and psychological changes that characterize pubertal growth and development. A human life stage that begins at twelve years of age and continues until eighteen complete years of age. This phase marks the start of physical, physiological and psychological changes that characterize pubertal growth and development. C39298 Adolescence C90259 NICHD Terminology C89332 Eating Disorder Eating Disorder A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake. C2893 Psychiatric Disorder C90259 NICHD Terminology C89333 Term Infant Term Infant Full Term Neonate An age group comprised of infants greater than or equal to 37 weeks, 0 days and less than or equal to 41 weeks, 6 days gestational age. A newborn infant greater than or equal to 37 weeks, 0 days and less than or equal to 41 weeks, 6 days gestational age. C16731 Newborn C90259 NICHD Terminology C89334 Learning Disorder Learning Disorder A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect. C92190 Pediatric Psychiatric Disorder C90259 NICHD Terminology C89335 Life Stage Life Stage A designation assigned to a particular period during a life cycle, generally defined by chronological parameters. C21514 Temporal Qualifier C90259 NICHD Terminology C89337 Congenital Musculoskeletal Defect Congenital Musculoskeletal Defect Congenital Abnormality of the Musculoskeletal System An abnormality of the musculoskeletal system that is present at birth or detected in the neonatal period. C2849 Congenital Malformation C107377 Musculoskeletal System Disorder C90259 NICHD Terminology C89338 Neurodevelopmental Disorder Neurodevelopmental Disorder A childhood disorder that has a neurological basis and manifests as a developmental disability. Conditions characterized by impaired central nervous system function occurring in childhood. C26835 Nervous System Disorder C89330 Developmental Disorder C90259 NICHD Terminology C89339 Neurological Screening Neurological Screening A specific type of neurologic examination for early detection of disease(s) and/or disorder(s). C81313 Neurologic Examination C90259 NICHD Terminology C89340 Obstetric Procedure Obstetric Procedure Any pregnancy or childbirth related procedure associated with a mother during her reproductive years. C25218 Intervention or Procedure C90259 NICHD Terminology C89342 Toddler Toddler An age group comprised of individuals between 12 and 18 months of age. C16423 Child C90259 NICHD Terminology C89343 Finnegan Score Measurement Finnegan Score Measurement A tool to evaluate neonatal abstinence syndrome (NAS), that measures the degree to which a neonate is experiencing symptoms of withdrawal due to maternal substance abuse. A specific type of neonatal abstinence syndrome assessment used for the purposes of diagnosis and guidance of therapy. C89515 Neonatal Abstinence Syndrome Assessment C90259 NICHD Terminology C89344 Late Adolescence Late Adolescence A human life stage that begins at nineteen years of age and continues until twenty-one complete years of age. This phase includes the final stages of pubertal growth and development as well as the attainment of significant psycho-social milestones. A human life stage that begins at nineteen years of age and continues until twenty-one complete years of age. This phase includes the final stages of pubertal growth and development as well as the attainment of significant psycho-social milestones. C39298 Adolescence C90259 NICHD Terminology C89345 Childhood Childhood Child Life Stage A time period that begins at the beginning of the human embryonic stage and continues until the end of adolescence. A time period that begins at the beginning of the human embryonic stage and continues until the end of adolescence. C89335 Life Stage C90259 NICHD Terminology C89346 Early Childhood Early Childhood A human life stage that begins at two years of age and continues until five complete years of age. A human life stage that begins at two years of age and continues until five complete years of age. C89345 Childhood C90259 NICHD Terminology C89347 Middle Childhood Middle Childhood A human life stage that begins at six years of age and continues until eleven complete years of age. A human life stage that begins at six years of age and continues until eleven complete years of age. C89345 Childhood C90259 NICHD Terminology C89512 Barlow's Maneuver Barlow's Maneuver Useful in assessing for developmental dysplasia of the hip, this test is performed when the thigh is pushed posteriorly and the hip is adducted. Should the hip become dislocated by this movement, the result is considered positive. A physical examination performed on infants to screen for developmental dysplasia of the hip that attempts to displace the femoral head posteriolaterally from within the acetabulum. C84749 Newborn Examination C90259 NICHD Terminology C89513 Heel to Ear Measurement Heel to Ear Measurement Useful in assessing neonatal neuromuscular development, this is obtained when the infant is placed in a supine position and the infant's feet are grasped pulled toward the ipsilateral ears. The examiner measures the angle made by the arc from the table to the infant's heels; increased angle for age suggests hypotonia, and decreased angle for age suggests hypertonia. A test of neuromuscular maturity, which measures knee extensibility and resistance to extensor stretching, used during the clinical assessment of gestational age and muscle tone during the first five days of life. C84749 Newborn Examination C90259 NICHD Terminology C89514 Palmar Crease Examination Palmar Crease Examination Inspection of palm crease When examining the infant's palm for abnormalities, the examiner may note a single transverse palmar crease, which is found in 5% of newborns and is frequently inherited as a familial trait. However, single palmar creases can be associated with Down's syndrome and other genetic disorders, or with fetal alcohol syndrome. C84749 Newborn Examination C90259 NICHD Terminology C89515 Neonatal Abstinence Syndrome Assessment Neonatal Abstinence Syndrome Assessment The measurement of the degree to which a neonate is experiencing symptoms of withdrawal due to maternal substance abuse; the score can be used to determine subsequent treatment of the infant. An assessment to measure the constellation of features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors. C84749 Newborn Examination C90259 NICHD Terminology C89516 Neuromuscular Maturity Assessment Neuromuscular Maturity Assessment A neuromuscular examination of a newborn's developmental characteristics. A neuromuscular examination of a newborn's developmental characteristics to confirm or assign gestational age. C84749 Newborn Examination C90259 NICHD Terminology C89517 Ortolani Maneuver Ortolani Maneuver When testing for congenital dislocation of the hip, this is the result obtained when the examiner gently abducts the hip while pushing upward on the greater trochanter. If the hip is dislocated, it will relocate with an audible clunk, which is a positive result for this test. A physical examination performed on infants to screen for developmental dysplasia of the hip that attempts to relocate a posteriorly displaced femoral head anteriorly into the acetabulum. C84749 Newborn Examination C90259 NICHD Terminology C89518 Physical Maturity Assessment Physical Maturity Assessment A physical examination of a newborn's developmental characteristics. A physical examination of a newborn's developmental characteristics to confirm or assign gestational age. C84749 Newborn Examination C90259 NICHD Terminology C89519 Popliteal Angle Measurement Popliteal Angle Measurement An examination whereby the patient is placed supine, the hip is flexed 90 degrees, and the knee is extended until firm resistance is met. The popliteal angle is the angle from the tibia to the femur. This measurement is used to assess hamstring contracture in children with cerebral palsy. A test of neuromuscular maturity, which measures leg extensibility and resistance to extensor stretching, used during the clinical assessment of gestational age and muscle tone during the first five days of life. C84749 Newborn Examination C90259 NICHD Terminology C89520 Square Window Square Window Sign Square Window When testing the newborn infant for neuromuscular maturity, the "square window" test measures wrist flexibility and resistance to extensor stretching, The examiner straightens the infant's fingers and applies gentle pressure on the dorsum of the hand, close to the fingers, and then estimates the angle between the palm of the hand and the forearm. A test of neuromuscular maturity, which measures wrist extensibility and resistance to extensor stretching, used during the clinical assessment of gestational age and muscle tone during the first five days of life. C84749 Newborn Examination C90259 NICHD Terminology C89521 Scarf Sign Scarf Sign When testing the newborn infant for neuromuscular maturity, the "scarf sign" test is carried out by drawing the newborn's arm across the chest to the opposite shoulder until resistance is felt. In term infants, the elbow should not cross the midline of the chest. A test of neuromuscular maturity, which measures resistance to shoulder adduction, used during the clinical assessment of gestational age and muscle tone during the first five days of life. C84749 Newborn Examination C90259 NICHD Terminology C8965 Lymphangioma Lymphangioma A benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation. C3262 Neoplasm C90259 NICHD Terminology C89715 Migraine Migraine Migraine Headache A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity. A headache disorder characterized by recurrent episodes of moderate to severe pulsating pain, and may be associated with nausea, vomiting, photophobia , phonophobia, and worsening with exertion. C34661 Headache C90259 NICHD Terminology C89885 Fetal Stage Fetal Stage A human life stage, during prenatal development, that typically begins at the beginning of nine weeks after fertilization (full formation of the embryo) and continues until birth. A human life stage, during prenatal development, that typically begins at the beginning of nine weeks after fertilization (full formation of the embryo) and continues until birth. C89335 Life Stage C90259 NICHD Terminology C89887 Full Term Neonatal Stage Full Term Neonatal Stage Neonatal Stage || Term Neonatal Stage A human life stage that begins at full term birth and continues until twenty-seven complete days of age. A human life stage that begins at full term birth and continues until twenty-seven complete days of age. C89345 Childhood C90259 NICHD Terminology C89888 Preterm Neonatal Stage Preterm Neonatal Stage A human life stage that begins at birth prior to thirty-seven weeks of full gestation (full term) and continues until twenty-seven complete days after birth. A human life stage that begins at birth prior to thirty-seven weeks of full gestation (full term) and continues until twenty-seven complete days after birth. C89887 Full Term Neonatal Stage C90259 NICHD Terminology C89889 Infancy Infancy Infant Stage A human life stage that begins at birth and continues until twelve complete months of age. A human life stage that begins at birth and continues until twelve complete months of age. C89345 Childhood C90259 NICHD Terminology C89890 Toddler Stage Toddler Stage A human life stage that begins at thirteen months of age and continues until twenty-four complete months of age. A human life stage that begins at thirteen months of age and continues until twenty-four complete months of age. C89345 Childhood C90259 NICHD Terminology C9011 Dermoid Cyst Dermoid Cyst Subcutaneous Cystic Teratoma A mature teratoma characterized by the presence of a cyst which is lined by mature tissue resembling the epidermis and the epidermal appendages. It occurs in the ovary, testis, and extragonadal sites including central nervous system and skin. A benign hamartomatous tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure. In neonates, it is most commonly congenital and located in the subcutaneous tissues of the head, neck, or trunk. C2978 Cyst C90259 NICHD Terminology C9022 Childhood Astrocytic Tumor Childhood Astrocytic Tumor An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location. An astrocytic tumor arising during childhood, without designation of benign or malignant, nor a designated location. C5132 Childhood Central Nervous System Neoplasm C90259 NICHD Terminology C90337 Maternal Life Stage Maternal Life Stage The period of time during a female's reproductive years that she functions as a mother. C89335 Life Stage C90259 NICHD Terminology C90338 Maternal Postnatal Stage Maternal Postnatal Stage Postnatal Stage The stage in the life of a mother after she has given birth. C90337 Maternal Life Stage C90259 NICHD Terminology C90339 Maternal Prenatal Stage Maternal Prenatal Stage Prenatal Stage The stage in the life of a mother during which she is pregnant. C90337 Maternal Life Stage C90259 NICHD Terminology C90340 Maternal Preconception Stage Maternal Preconception Stage Preconception Stage The stage in the life of a female during which she is attempting to get pregnant. C90337 Maternal Life Stage C90259 NICHD Terminology C90341 Pediatric Intervention or Procedure Pediatric Intervention or Procedure A diagnostic or therapeutic course of action usually performed on patients under the age of 18. C25218 Intervention or Procedure C90259 NICHD Terminology C90342 Developmental Milestone Developmental Milestone Developmental Milestones Physical or behavioral signs of maturation or skills gained by a developing child, which should be achieved by a given age that provide important information regarding the child's development. The milestones are different for each age range. Failure to achieve a particular milestone by a given age is indicative of developmental delay. C3367 Finding C90259 NICHD Terminology C90346 Behavior during Childhood Behavior during Childhood Child Behavior Observed actions from individuals between 2 and 18 years of age. C16326 Behavior C90259 NICHD Terminology C9039 Cervical Carcinoma Cervical Carcinoma A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma. C9305 Cancer C90259 NICHD Terminology C9042 Childhood Brain Stem Glioma Childhood Brain Stem Glioma A glioma that arises from the brain stem and occurs during childhood. An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly during the first two decades of life. C5969 Childhood Brain Stem Tumor C90259 NICHD Terminology C9047 Childhood Intraocular Retinoblastoma Intraocular Retinoblastoma Childhood Intraocular Retinoblastoma Retinoblastoma during childhood that has not spread beyond the eye. Retinoblastoma localized to the eye. It may be confined to the retina or may extend to involve other structures such as the choroid, ciliary body, anterior chamber, and optic nerve head. C7541 Retinoblastoma C90259 NICHD Terminology C9048 Childhood Extraocular Retinoblastoma Extraocular Retinoblastoma Childhood Extraocular Retinoblastoma || Childhood Metastatic Retinoblastoma Retinoblastoma during childhood that has spread beyond the eye. Retinoblastoma that has spread beyond the eye. C7541 Retinoblastoma C90259 NICHD Terminology C90491 Pregnancy Outcome Pregnancy Outcome Findings observed at the end of a pregnancy. C92720 Pregnancy Finding C90259 NICHD Terminology C90492 Personal Information Personal Information Data, facts or figures about an individual; the set of relevant items would depend on the use case. C20189 Property or Attribute C90259 NICHD Terminology C90496 Arm Recoil Test Arm Recoil Test Arm Recoil Measurement A test commonly administered to assess the physiologic response to extending the arms as straight as possible alongside the body when lying down. C84749 Newborn Examination C90259 NICHD Terminology C90497 Galeazzi Test Galeazzi Test Allis Sign An assessment for developmental dysplasia of the hip or a leg-length discrepancy, the patient is placed in a supine position and the ankles are brought to the buttocks with the hips and knees flexed. The result is considered positive when the knees are at different heights. A physical examination performed on newborn infants to screen for developmental dysplasia of the hip that attempts to identify femoral length discrepancy. C84749 Newborn Examination C90259 NICHD Terminology C90498 Risk Factor Assessment Risk Factor Assessment A systematic gathering of information regarding the variables associated with an individual's increased risk of disease or infection. C25214 Evaluation Procedure C90259 NICHD Terminology C90501 Labored Breathing Labored Breathing Breathing that requires observed effort or an increased amount of energy. Breathing that requires observed effort or an increased amount of energy. C100104 Sign or Symptom C90259 NICHD Terminology C90599 Bronchopulmonary Dysplasia Bronchopulmonary Dysplasia BPD Chronic lung disease requiring treatment with oxygen for at least 28 days and with a spectrum of severity from mild to severe, that predominantly affects premature infants. While the radiologic pattern is typical in the closer to term patient, the pattern in the small preterm infant is very non-discrete and variable. A chronic lung disorder associated with pulmonary maldevelopment, scarring, and/or inflammation that develops in preterm neonates. The condition is defined based on treatment with supplemental oxygen for at least 28 days adjusted for the degree of prematurity. C97173 Congenital Respiratory System Disorder C90259 NICHD Terminology C90603 Medication Administered at Birth Medication Administered at Birth Medication Given at Birth Pharmacologic agents administered to a neonate at birth. C49236 Therapeutic Procedure C90259 NICHD Terminology C9079 Childhood Immunoblastic Lymphoma Childhood Immunoblastic Lymphoma An immunoblastic lymphoma (a variant of diffuse large B-cell lymphoma) occurring in children. An immunoblastic lymphoma (a variant of diffuse large B-cell lymphoma) occurring in children. C7706 Childhood Non-Hodgkin Lymphoma C90259 NICHD Terminology C9095 Childhood Burkitt Lymphoma Childhood Burkitt Lymphoma Childhood Small Non-Cleaved Cell Lymphoma || Pediatric Small Non-Cleaved Cell Lymphoma A Burkitt lymphoma occurring in children. An aggressive lymphoma showing a mature B cell phenotype with the malignant cells expressing surface immunoglobulin. It is characterized by a consistent chromosomal translocation, usually t(8;14), or rarely t(8;22) or t(2;8). It accounts for 40% of childhood non-Hodgkin lymphoma. C7706 Childhood Non-Hodgkin Lymphoma C90259 NICHD Terminology C9118 Sarcoma Sarcoma A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma. C9305 Cancer C90259 NICHD Terminology C9124 Childhood Lymphoblastic Lymphoma Childhood Lymphoblastic Lymphoma A lymphoblastic lymphoma occurring in children. A lymphoma occurring in children primarily derived from precursor T cells and less frequently precursor B cells. C7706 Childhood Non-Hodgkin Lymphoma C90259 NICHD Terminology C9140 Childhood B Acute Lymphoblastic Leukemia Childhood B Acute Lymphoblastic Leukemia Childhood B-ALL An acute B-lymphoblastic leukemia occurring in children. An acute B-lymphoblastic leukemia occurring during childhood. C3168 Childhood Acute Lymphoblastic Leukemia C8644 B Acute Lymphoblastic Leukemia C90259 NICHD Terminology C9145 Osteosarcoma Osteosarcoma A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs. A malignant neoplasm of connective tissue origin that produces bone or osteoid. C9118 Sarcoma C90259 NICHD Terminology C9158 Childhood Acute Myeloid Leukemia without Maturation Childhood Acute Myeloid Leukemia without Maturation An acute myeloid leukemia without maturation occurring in children. An acute myeloid leukemia without maturation occurring in children. C3249 Acute Myeloid Leukemia without Maturation C90259 NICHD Terminology C9160 Childhood Acute Myeloid Leukemia Childhood Acute Myeloid Leukemia Acute myeloid leukemia occurring in childhood. An acute myeloid leukemia occurring during childhood. C3171 Acute Myeloid Leukemia C4989 Childhood Leukemia C90259 NICHD Terminology C9162 Childhood Acute Monoblastic Leukemia Childhood Acute Monoblastic Leukemia An acute monoblastic leukemia occurring in children. An acute monoblastic leukemia occurring during childhood. C7940 Childhood Acute Monoblastic and Monocytic Leukemia C90259 NICHD Terminology C9163 Childhood Acute Monocytic Leukemia Childhood Acute Monocytic Leukemia An acute monocytic leukemia occurring in children. An acute monocytic leukemia occurring during childhood. C7940 Childhood Acute Monoblastic and Monocytic Leukemia C90259 NICHD Terminology C9164 Childhood Acute Erythroid Leukemia Childhood Acute Erythroid Leukemia An acute erythroid leukemia occurring in children. A subtype of acute myeloid leukemia occurring in children that involves the erythroid line. C8923 Acute Erythroid Leukemia C90259 NICHD Terminology C91715 Inactivated Poliovirus Vaccine Inactivated Poliovirus Vaccine IPV A vaccine consisting of inactivated poliovirus (IPV) types 1,2 and 3, with active immunizing activity against poliomyelitis. Upon intramuscular vaccination, inactivated poliovirus vaccine (IPV) activates the immune system to develop antibodies against polioviruses. C29694 Inactivated Vaccine C90259 NICHD Terminology C91717 Diphtheria Toxoid/Tetanus Toxoid/Acellular Pertussis Vaccine Adsorbed Diphtheria Toxoid/Tetanus Toxoid/Acellular Pertussis Vaccine DTaP || Diphtheria Toxoid Tetanus Toxoid Acellular Pertussis Vaccine Adsorbed A vaccine containing detoxified tetanus toxoid, detoxified diphtheria toxoid and acellular pertussis antigens, adsorbed on aluminum phosphate, with active immunizing activity against diphtheria, tetanus and pertussis. The acellular pertussis vaccine components, produced by Bordetella pertussis, are detoxified pertussis toxin (PT), filamentous hemagglutinin (FHA), pertactin (PRN) and fimbriae types 2 and 3 (FIM). Intramuscular injection with this vaccine activates the immune system to develop antibodies against tetanus toxin, diphtheria toxin and B. pertussis antigens. C2848 Polyvalent Vaccine C90259 NICHD Terminology C91718 Diphtheria Toxoid/Tetanus Toxoid Vaccine Adsorbed Diphtheria Toxoid/Tetanus Toxoid Vaccine Adsorbed DT || Diphtheria Toxoid Tetanus Toxoid Vaccine Adsorbed A vaccine containing detoxified tetanus toxoid and detoxified diphtheria toxoid adsorbed on aluminum phosphate with active immunizing activity against diphtheria and tetanus. Intramuscular injection with this vaccine activates the immune system to develop antibodies against tetanus toxin and diphtheria toxin. C96398 Toxoid Vaccine C90259 NICHD Terminology C9174 Childhood Angiosarcoma Childhood Angiosarcoma An angiosarcoma occurring in childhood. An angiosarcoma occurring during childhood. C7715 Childhood Soft Tissue Sarcoma C90259 NICHD Terminology C9175 Bowel Obstruction Bowel Obstruction Intestinal Obstruction Blockage of the normal flow of the intestinal contents within the bowel. A blockage of the passage of the intestinal contents. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C91782 Immune Hemolytic Anemia Immune Hemolytic Anemia An acquired anemia resulting from immune-mediated destruction of the red blood cells. Causes include autoimmune disorders, blood transfusions, and drugs. An acquired anemia resulting from immune-mediated destruction of the erythrocytes. C34377 Acquired Hemolytic Anemia C131656 Anemia due to Increased Destruction C90259 NICHD Terminology C91833 Feeding Tube Feeding Tube A tube directed into the stomach, duodenum or jejunum from the nose, mouth or through the skin, for the purposes of delivering nutrition. C62103 Device C90259 NICHD Terminology C92190 Pediatric Psychiatric Disorder Pediatric Psychiatric Disorder Childhood Mental Disorder A category of psychiatric disorders which includes disorders most commonly identified in infancy, childhood, or adolescence. C89328 Pediatric Disorder C90259 NICHD Terminology C9224 Esophagitis Esophagitis An acute or chronic inflammatory process affecting the esophageal wall. Inflammation of the esophagus as confirmed by histology. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C92258 Hemoglobin A Measurement Hemoglobin A Measurement The determination of the amount of hemoglobin A present in a sample. C64848 Hemoglobin Measurement C90259 NICHD Terminology C92259 Hemoglobin A2 Measurement Hemoglobin A2 Measurement The determination of the amount of hemoglobin A2 present in a sample. C64848 Hemoglobin Measurement C90259 NICHD Terminology C92261 Hemoglobin C Measurement Measurement of Hemoglobin C The determination of the amount of hemoglobin C present in a sample. C64848 Hemoglobin Measurement C90259 NICHD Terminology C9227 Hypogonadism Hypogonadism Gonadotropin Deficiency A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation. Decreased or absent production of sex steroids by the ovaries or testes. C36285 Endocrine System Finding C90259 NICHD Terminology C9229 Systemic Disease Systemic Disorder A clinical course finding indicating that a disease presents with systemic manifestations. A disorder that affects in multiple tissue types or in multiple organ systems, or affects the body as a whole. C2991 Disease or Disorder C90259 NICHD Terminology C923 Vaccine Vaccine Preparations containing substances with antigenic properties administered to activate the immune system, thereby inducing an immune response. C307 Biologic C90259 NICHD Terminology C9233 Juvenile Myelomonocytic Leukemia Juvenile Myelomonocytic Leukemia Chronic Myelomonocytic Leukemia || JMML A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001) A myelodysplastic/myeloproliferative neoplasm of childhood that is principally characterized by proliferation of the granulocytic and monocytic lineages. C4989 Childhood Leukemia C90259 NICHD Terminology C9234 Childhood Spinal Cord Neoplasm Childhood Spinal Cord Tumor Childhood Spinal Cord Neoplasm A benign or malignant neoplasm affecting the spinal cord during childhood. A benign or malignant neoplasm affecting the spinal cord during childhood. C5132 Childhood Central Nervous System Neoplasm C90259 NICHD Terminology C92561 Developmental Coordination Disorder Developmental Dyspraxia Development Coordination Disorder || Developmental Coordination Disorder A disorder characterized by an impairment in the development of an individual's motor coordination skills; this impairment in motor development is not due to a medical condition. A developmental disorder characterized by voluntary motor skill impairment. C89338 Neurodevelopmental Disorder C90259 NICHD Terminology Clumsy Child Syndrome C92566 Pica Eating Disorder Pica An eating disorder characterized by the persistent eating of nonnutritive substances such as clay or soil; this behavior must be inappropriate to the level of the individual's development. Desire for and/or consumption of non-food products. C89332 Eating Disorder C90259 NICHD Terminology C92567 Rumination Disorder Rumination An eating disorder most commonly observed in infants characterized by the repeated regurgitation and rechewing of food for a period of at least one month; this behavior is not associated with a gastrointestinal or other medical reason. Unintentional and reflexive regurgitation and rechewing of undigested food. C92190 Pediatric Psychiatric Disorder C90259 NICHD Terminology C92568 Encopresis Encopresis An elimination disorder characterized by fecal incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs in someone who is toilet trained. The leakage of stool in an individual who is toilet trained. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C92569 Selective Mutism Selective Mutism A persistent failure to speak in certain social situations (i.e., school) where speaking is expected, despite speaking in other situations. C2878 Anxiety Disorder C90259 NICHD Terminology C92621 Acute Stress Disorder Acute Stress Disorder An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month. C2878 Anxiety Disorder C90259 NICHD Terminology C92622 Generalized Anxiety Disorder Generalized Anxiety Disorder An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months. C2878 Anxiety Disorder C90259 NICHD Terminology C92711 Fetal Finding Fetal Finding Any intrauterine symptom or result related to the fetus. C3367 Finding C90259 NICHD Terminology C92715 Fetal Heart Finding Fetal Heart Finding An observation of the fetal heart that may or may not be abnormal. C92711 Fetal Finding C90259 NICHD Terminology C92716 Fetal Heart Rate Fetal Heart Rate The number of fetal cardiac beats per minute. The number of fetal cardiac beats per minute. C49677 Heart Rate C90259 NICHD Terminology C92719 Fetal Disorder Fetal Disorder Disorder of Fetus A non-neoplastic or neoplastic disorder which occurs in the fetus. C89328 Pediatric Disorder C90259 NICHD Terminology C92720 Pregnancy Finding Pregnancy Finding Symptoms, signs, diagnostic examinations or a test results in a pregnant mother. C3367 Finding C90259 NICHD Terminology C92722 Qualitative Concept Qualitative Concept A measurement expressed in words rather than numbers. C20189 Property or Attribute C90259 NICHD Terminology C92734 Artificial Rupture of Membrane Artificial Rupture of Membranes AROM Perforation of fetal membranes to facilitate childbirth. Perforation of fetal membranes to facilitate childbirth. C92814 Induction of Labor C90259 NICHD Terminology C92738 Assisted Labor Assisted Labor An intervention during the childbirth process to help the laboring mother deliver her baby. C89340 Obstetric Procedure C90259 NICHD Terminology C92741 Baseline Fetal Heart Rate Baseline Fetal Heart Rate The number of fetal cardiac beats per minute, considered as the reference value against which measurements in the future can be made. The mean fetal heart rate rounded to increments of 5 beats per minute during a 10 minute segment, excluding accelerations and decelerations, periods of marked variability, or baseline segments that differ by more than 25 beats per minute. In any given 10 minute window, the minimum baseline duration must be at least 2 minutes but not necessarily contiguous. C92716 Fetal Heart Rate C90259 NICHD Terminology C92743 Birthing Labor Labor Uterine contractions resulting in cervical change (dilation and/or effacement). (reVITALize) Uterine contractions resulting in cervical change (dilation and/or effacement). [verbatim from reVITALize] C19988 Organismal Process C90259 NICHD Terminology C92744 Blood Glucose Measurement Blood Glucose Measurement Glucose Measurement, Blood A quantitative measurement for assessing the amount of glucose present in a blood sample. C49286 Hematology Test C90259 NICHD Terminology C92749 Cephalo-Pelvic Disproportion Arrest of Descent CPD || Cephalopelvic Disproportion After complete dilatation, failure of the fetal presenting part to descend through the pelvis. After complete dilatation, failure of the fetal presenting part to descend through the pelvis. C118419 Labor Complication C81236 Birth Complication C90259 NICHD Terminology C92753 Cesarean Hysterectomy Cesarean Hysterectomy Caesarean Hysterectomy The removal of the uterus, after the delivery of the fetus, in the concurrent surgical session. The removal of the uterus, after the delivery of the fetus, in the concurrent surgical session. C15332 Gynecologic Surgical Procedure C90259 NICHD Terminology C92755 Chorionic Villus Sampling Chorionic Villus Sampling CVS The biopsy of placental tissue containing the chorionic villi from the maternal uterus in early pregnancy to diagnose fetal genetic defects. The biopsy of placental tissue containing the chorionic villi from the maternal uterus in early pregnancy to diagnose fetal genetic defects. C89340 Obstetric Procedure C90259 NICHD Terminology C92756 Compound Fetal Presentation Compound Fetal Presentation Compound Presentation A presentation of the fetal hand or arm before the fetal vertex. A presentation of the fetal hand or arm before the fetal vertex. C92793 Fetal Malpresentation C90259 NICHD Terminology C92761 Cornual Pregnancy Cornual Pregnancy An abnormal pregnancy in which the conception is implanted and develops in the cornu of uterus. An abnormal pregnancy in which the conception is implanted and develops in the cornu of uterus. C34945 Ectopic Pregnancy C90259 NICHD Terminology C92770 Early Deceleration Early Fetal Heart Rate Deceleration Early Deceleration || Early Fetal Heart Deceleration A gradual decrease in the fetal heart rate and return to baseline that is associated with a uterine contraction. The nadir of the deceleration occurs at the same time as the peak of the uterine contraction, and the time from onset to nadir of the deceleration is greater than or equal to 30 seconds. A gradual decrease in the fetal heart rate and return to baseline that is associated with a uterine contraction. The nadir of the deceleration occurs at the same time as the peak of the uterine contraction, and the time from onset to nadir of the deceleration is greater than or equal to 30 seconds. C92789 Fetal Heart Deceleration C90259 NICHD Terminology C92772 Emergency Cesarean Delivery Emergency Cesarean Delivery Emergency Caesarean Delivery || Emergency Caesarean Section || Emergency Cesarean Section || Stat Cesarean Delivery || Urgent Cesarean Delivery A cesarean delivery that is not scheduled, planned or anticipated and is typically undertaken with short notice. A cesarean delivery that is not scheduled, planned or anticipated and is typically undertaken with short notice. C46088 Cesarean Birth C90259 NICHD Terminology C92778 Face Presentation Face Presentation A fetal presentation during delivery in which the face of the fetus is first to descend into the birth canal. A fetal presentation during delivery in which the face of the fetus is first to descend into the birth canal. C92711 Fetal Finding C90259 NICHD Terminology C92779 Threatened Term Labor Threatened Term Labor False Labor Frequent painful contractions beyond 37 weeks of gestation without advancing into labor or delivery. Frequent painful contractions beyond 37 weeks of gestation without advancing into labor or delivery. C92743 Labor C92720 Pregnancy Finding C90259 NICHD Terminology C92780 Fetal Alcohol Spectrum Disorder Fetal Alcohol Spectrum Disorder A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues. C92719 Fetal Disorder C90259 NICHD Terminology C92782 Fetal Bradycardia Fetal Bradycardia Baseline Fetal Bradycardia || Bradycardia Fetal A fetal heart rate below 110 bpm that is sustained for longer than 10 minutes. A fetal heart rate below 110 bpm that is sustained for longer than 10 minutes. C92715 Fetal Heart Finding C90259 NICHD Terminology C92786 Fetal Fibronectin Test Fetal Fibronectin Test FFN || Fetal Fibronectin Measurement A test for the presence of fetal fibronectin in the cervico-vaginal area that is used to predict preterm birth. A test for the presence of fetal fibronectin in the cervico-vaginal area that is used to predict preterm birth. C25294 Laboratory Procedure C90259 NICHD Terminology C92788 Fetal Heart Acceleration Fetal Heart Rate Acceleration Fetal Heart Acceleration An abrupt increase is defined as an increase from the onset of acceleration to the peak in less than 30 seconds. To be called an acceleration, the peak must be greater than or equal to 15 bpm, and the acceleration must last greater than or equal to 15 seconds from the onset to return to baseline. An abrupt increase is defined as an increase from the onset of acceleration to the peak in less than 30 seconds. To be called an acceleration, the peak must be greater than or equal to 15 bpm, and the acceleration must last greater than or equal to 15 seconds from the onset to return to baseline. C92715 Fetal Heart Finding C90259 NICHD Terminology C92789 Fetal Heart Deceleration Fetal Heart Deceleration Fetal Heart Rate Deceleration A decrease in the fetal heart rate that has a duration of less than 10 minutes. A decrease from the baseline fetal heart rate that has a duration of less than 10 minutes. C92715 Fetal Heart Finding C90259 NICHD Terminology C92790 Fetal Heart Rate Variability Fetal Heart Rate Variability Fluctuations in the baseline fetal heart rate, determined in a 10 minute window while excluding accelerations and decelerations. They are irregular in amplitude and frequency and are visually quantitated as the amplitude of the peak to trough in beats per minute. Sinusoidal patterns are also excluded. Fluctuations in the baseline fetal heart rate, determined in a 10 minute window while excluding accelerations and decelerations. They are irregular in amplitude and frequency and are visually quantitated as the amplitude of the peak to trough in beats per minute. Sinusoidal patterns are also excluded. C92715 Fetal Heart Finding C90259 NICHD Terminology C92791 Fetal Heart Tone Fetal Heart Tone The sounds of the fetal heart. Auscultated fetal heart sounds. C92715 Fetal Heart Finding C90259 NICHD Terminology C92792 Fetal Heart Tone Location Fetal Heart Tone Location The site of fetal cardiac sounds that can be distinctly detected in relation to the maternal abdomen. The site of fetal heart sounds in relation to the maternal abdomen. C92715 Fetal Heart Finding C90259 NICHD Terminology C92793 Fetal Malpresentation Fetal Malpresentation Malpresentation Any presentation other than a vertex presentation. (reVITALize) Any presentation other than a vertex presentation. [verbatim from reVITALize] C81236 Birth Complication C92711 Fetal Finding C90259 NICHD Terminology C92794 Fetal Pulse Oximetry Fetal Pulse Oximetry A method to assess fetal oxygenation status during labor and delivery using a noninvasive reflectance pulse oximeter. C90341 Pediatric Intervention or Procedure C90259 NICHD Terminology C92795 Fetal Restitution Fetal Restitution The repositioning of the fetal head attitude immediately after delivery, returning to a normal position in alignment with the rest of its body. The repositioning of the fetal head attitude immediately after delivery, returning to a normal position in alignment with the rest of its body. C89340 Obstetric Procedure C90259 NICHD Terminology C92796 Fetal Tachycardia Fetal Tachycardia Baseline Fetal Tachycardia || Tachycardia Fetal A fetal heart rate above 160 bpm that is sustained for longer than 10 minutes. A fetal heart rate above 160 bpm that is sustained for longer than 10 minutes. C92715 Fetal Heart Finding C92719 Fetal Disorder C90259 NICHD Terminology C92812 Hysterotomy Abortion Hysterotomy Abortion A type of abortion where the product of conception is accessed through a surgical incision on the corpus uteri intended to terminate the pregnancy. Removal of a previable fetus through an uterine incision. C92954 Induced Abortion C90259 NICHD Terminology C92814 Induction of Labor Induction of Labor The use of pharmacological and/or mechanical methods to initiate labor, including spontaneous rupture of membranes without contractions. Examples of methods include: artificial rupture of membranes, balloons, oxytocin, prostaglandin, laminaria, or other cervical ripening agents. (adapted from reVITALize) The use of pharmacological and/or mechanical methods to initiate labor, including spontaneous rupture of membranes without contractions. Examples of methods include: artificial rupture of membranes, balloons, oxytocin, prostaglandin, laminaria, or other cervical ripening agents. [adapted from reVITALize] C92738 Assisted Labor C90259 NICHD Terminology C92816 Intermittent Deceleration Intermittent Fetal Heart Rate Deceleration Intermittent Deceleration Fetal heart rate decelerations that occur with less than 50 percent of uterine contractions within a 20 minute timeframe. Fetal heart rate decelerations that occur with less than 50 percent of uterine contractions within a 20 minute timeframe. C92789 Fetal Heart Deceleration C90259 NICHD Terminology C92820 Intrauterine Cordocentesis Intrauterine Cordocentesis PUBS || Percutaneous Umbilical Blood Sampling The retrieval of blood sample from the umbilical cord while the fetus is in utero. The retrieval of a blood sample from the umbilical cord while the fetus is in utero. C89340 Obstetric Procedure C90259 NICHD Terminology C92822 Late Deceleration Late Fetal Heart Rate Deceleration Late Deceleration || Late Fetal Heart Deceleration A gradual decrease in the fetal heart rate and return to baseline that is associated with a uterine contraction. The nadir of the deceleration occurs after the peak of the uterine contraction, and the time from onset to nadir of the deceleration is greater than or equal to 30 seconds. A gradual decrease in the fetal heart rate and return to baseline that is associated with a uterine contraction. The nadir of the deceleration occurs after the peak of the uterine contraction, and the time from onset to nadir of the deceleration is greater than or equal to 30 seconds. C92789 Fetal Heart Deceleration C90259 NICHD Terminology C92824 Amniotic Fluid Leak Leakage of Amniotic Fluid Amniorrhea The discharge of amniotic fluid vaginally due to a tear or rupture in the amniotic membrane. The discharge of amniotic fluid vaginally due to a tear or rupture in the amniotic membranes. C34941 Pregnancy Complication C90259 NICHD Terminology C92829 Maternal Hypotension Maternal Hypotension A symptomatic decrease in baseline systolic or diastolic blood pressure in a pregnant woman that requires intervention. A symptomatic decrease in baseline systolic or diastolic blood pressure in a pregnant woman that requires intervention. C34941 Pregnancy Complication C90259 NICHD Terminology C92837 Nuchal Translucency Screen Nuchal Translucency Measurement NT An ultrasonic examination of the fetus in the late first trimester to measure the clear space at the back of the fetal neck to assess risk of genetic or cardiac abnormalities. An ultrasonic examination of the fetus in the late first trimester to measure the clear space at the back of the fetal neck to assess risk of genetic or cardiac abnormalities. C25294 Laboratory Procedure C90341 Pediatric Intervention or Procedure C90259 NICHD Terminology C92839 Oligohydramnios Oligohydramnios A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm. A lower than normal quantity of amniotic fluid in the amniotic sac. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm. C34941 Pregnancy Complication C92719 Fetal Disorder C90259 NICHD Terminology C92842 Persistent Fetal Bradycardia Persistent Fetal Bradycardia A decrease in the fetal heart beat rate below 110 per minute or below the normal baseline value expected for the particular fetal age for a period of more than 10 minutes. C92782 Fetal Bradycardia C90259 NICHD Terminology C92843 Persistent Fetal Tachycardia Persistent Fetal Tachycardia A fetal heart rate above 160 bpm that is sustained for longer than 10 minutes. C92796 Fetal Tachycardia C90259 NICHD Terminology C92848 Polyhydramnios Polyhydramnios An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm. An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm. C34941 Pregnancy Complication C92719 Fetal Disorder C90259 NICHD Terminology C92852 Postpartum Depression Major Depressive Episode with Peripartum Onset Depressive Episode with Postpartum Onset || Postnatal Depression || Postpartum Depression A type of clinical depression that occurs after childbirth. A major depressive episode that begins during pregnancy or within 4-6 weeks of delivery. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C92853 Postpartum Hemorrhage Postpartum Hemorrhage Hemorrhage defined as a blood loss in excess of 500 mL after vaginal delivery or more than 1000 mL after a cesarean delivery. Cumulative blood loss of greater than or equal to 1000 ML within 24 hours of delivery through four weeks postpartum that requires intervention. C26791 Hemorrhage C90259 NICHD Terminology C92861 Preterm Birth Preterm Birth Pre-Term || Preterm Delivery Birth when a fetus is less than 37 weeks and 0 days gestational age. Birth at less than 37 weeks and 0 days gestation. C90491 Pregnancy Outcome C90259 NICHD Terminology C92862 Preterm Premature Rupture of Membrane Preterm Premature Rupture of Membranes PPROM Spontaneous rupture of fetal membranes that occurs before the onset of labor and before 37 weeks. Spontaneous rupture of fetal membranes that occurs before the onset of labor and before 37 weeks. C87113 Premature Rupture of Membranes C90259 NICHD Terminology C92863 Prolonged Acceleration Prolonged Fetal Heart Rate Acceleration Prolonged Acceleration A fetal heart rate acceleration that lasts 2 to less than 10 minutes. A fetal heart rate acceleration that lasts 2 to less than 10 minutes. C92788 Fetal Heart Rate Acceleration C90259 NICHD Terminology C92864 Prolonged Deceleration Prolonged Fetal Heart Rate Deceleration Finding of Prolonged Deceleration || Prolonged Deceleration A decrease in the fetal heart rate below baseline lasting 2 to less than 10 minutes with a decrease from baseline that is greater than or equal to 15 beats per minute. A decrease in the fetal heart rate below baseline lasting 2 to less than 10 minutes with a decrease from baseline that is greater than or equal to 15 beats per minute. C92789 Fetal Heart Deceleration C90259 NICHD Terminology C92866 Recurrent Deceleration Recurrent Fetal Heart Rate Deceleration Recurrent Deceleration Fetal heart rate decelerations that occur with greater than or equal to 50 percent of uterine contractions within a 20 minute timeframe. Applies to early, late or variable decelerations. Fetal heart rate decelerations that occur with greater than or equal to 50 percent of uterine contractions within a 20 minute timeframe. Applies to early, late or variable decelerations. C92789 Fetal Heart Deceleration C90259 NICHD Terminology C9287 Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 An acute myeloid leukemia with monocytic and granulocytic differentiation and the presence of a characteristically abnormal eosinophil component in the bone marrow. This type of acute myeloid leukemia has a favorable prognosis. (WHO, 2001) Acute myeloid leukemia characterized by the presence of abnormal bone marrow eosinophils and the characteristic cytogenetic abnormality inv(16)(p13.1q22) or t(16;16)(p13.1;q22), which results in the expression of the fusion protein CBFB-MYH11. This is seen in 7-9% of children with AML. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C90259 NICHD Terminology C92872 Rubella Immunization Rubella Immunization The administration of a live attenuated viral vaccine to prevent rubella infection. C15258 Immunization C90259 NICHD Terminology C92873 Rubella Screening Rubella Screening A test during pregnancy to determine maternal exposure to the rubella virus that could lead to pregnancy complications or congenital rubella syndrome in the newborn. C25294 Laboratory Procedure C90259 NICHD Terminology C92879 Short-Term Fetal Heart Rate Variability Short-Term Fetal Heart Rate Variability Short Term Variability A non-sustained irregular fetal heart rate in comparison to normal baseline values. C92790 Fetal Heart Rate Variability C90259 NICHD Terminology C9288 Acute Myeloid Leukemia with t(8;21); (q22; q22.1); RUNX1-RUNX1T1 Acute Myeloid Leukemia with t(8;21)(q22;q22); RUNX1-RUNX1T1 AML with t(8;21)(q22;q22); RUNX1-RUNX1T1 An acute myeloid leukemia with t(8;21)(q22; q22.1) giving rise to RUNX1/RUNX1T1 fusion transcript and showing maturation in the neutrophil lineage. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules. This type of AML is associated with good response to chemotherapy and high complete remission rate. An acute myeloid leukemia (AML) associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. This is seen in 12% of children with AML. C7175 Acute Myeloid Leukemia with Recurrent Genetic Abnormalities C90259 NICHD Terminology C92880 Shoulder Presentation Shoulder Presentation A fetal presentation during delivery in which the shoulder descends into the birth canal first. A fetal presentation during delivery in which the shoulder descends into the birth canal first. C92793 Fetal Malpresentation C90259 NICHD Terminology C92888 Spontaneous Rupture of Membranes Spontaneous Rupture of Membranes SROM A rupture of the fetal membranes that is not concurrent with or immediately following a digital exam or other transvaginal intervention involving the amniotic membrane. A rupture of the fetal membranes that is not concurrent with or immediately following a digital exam or other transvaginal intervention involving the amniotic membrane. C92720 Pregnancy Finding C90259 NICHD Terminology C92902 Umbilical Cord Compression Umbilical Cord Compression A situation in utero, when there is increased pressure on the umbilical cord, which constricts blood supply to the fetus. A situation in utero, when there is increased pressure on the umbilical cord, which constricts blood supply to the fetus. C81236 Birth Complication C90259 NICHD Terminology C92911 Uterine Tachysystole Tachysystole Uterine Hypercontractility || Uterine Hyperstimulation Greater than 5 contractions in 10 minutes averaged over a 30 minute window. Greater than 5 contractions in 10 minutes averaged over a 30 minute window. C92720 Pregnancy Finding C90259 NICHD Terminology C92914 Variable Deceleration Variable Fetal Heart Rate Deceleration Finding of Variable Deceleration || Variable Deceleration An abrupt decrease in the fetal heart rate below baseline that lasts 15 seconds to less than two minutes. The decrease from baseline fetal heart rate is greater than or equal to 15 beats per minute, and the time from onset to nadir of the deceleration is less than 30 seconds. Variable fetal heart rate decelerations that are associated with successive uterine contractions commonly have varying onsets, depths, and durations. An abrupt decrease in the fetal heart rate below baseline that lasts 15 seconds to less than two minutes. The decrease from baseline fetal heart rate is greater than or equal to 15 beats per minute, and the time from onset to nadir of the deceleration is less than 30 seconds. Variable fetal heart rate decelerations that are associated with successive uterine contractions commonly have varying onsets, depths, and durations. C92789 Fetal Heart Deceleration C90259 NICHD Terminology C92915 Varicella Zoster Virus Immunization Varicella Zoster Virus Immunization Chickenpox Immunization The administration of a live attenuated viral vaccine to prevent herpes zoster infection. C15258 Immunization C90259 NICHD Terminology C92917 Vertex Presentation Vertex Presentation A fetal presentation where the head is presenting first in the pelvic inlet. Does not apply if compound or breech presentation or if brow, face, hand, shoulder, etc. present first in the pelvic inlet. (reVITALize) A fetal presentation where the head is presenting first in the pelvic inlet. Does not apply if compound or breech presentation or if brow, face, hand, shoulder, etc. present first in the pelvic inlet. [verbatim from reVITALize] C92711 Fetal Finding C90259 NICHD Terminology C92920 Assessment of Fetal Condition Fetal Assessment Any test to determine the fetal status, such as ultrasound or fetal heart rate monitoring. Any test to determine the fetal status, such as ultrasound or fetal heart rate monitoring. C90341 Pediatric Intervention or Procedure C90259 NICHD Terminology C92921 Abdominal Pregnancy Abdominal Pregnancy Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs. An abnormal pregnancy in which the conception is implanted in the peritoneal cavity or on the abdominal organs. C34945 Ectopic Pregnancy C90259 NICHD Terminology C92925 Fetal Biophysical Profile Fetal Biophysical Profile BPP A test of fetal well-being performed using a combination of ultrasound parameters (fetal movement, fetal tone, fetal breathing, amniotic fluid) and a non-stress test (NST). A test of fetal well-being performed using a combination of ultrasound parameters (fetal movement, fetal tone, fetal breathing, amniotic fluid) and a non-stress test (NST). C25294 Laboratory Procedure C90259 NICHD Terminology C92929 Fetal Heart Monitoring Fetal Heart Rate Monitoring Fetal Heart Monitoring The act of observing and recording the fetal heart rate for determining the baseline values or other abnormal findings. The act of observing and recording the fetal heart rate for determining the baseline values or other abnormal findings. C90341 Pediatric Intervention or Procedure C90259 NICHD Terminology C92932 Natural Birth Natural Birth Physiologic Childbirth Spontaneous labor and birth at term without the use of pharmacologic and/or mechanical interventions for labor stimulation or pain management throughout labor and birth. (reVITALize) Spontaneous labor and birth at term without the use of pharmacologic and/or mechanical interventions for labor stimulation or pain management throughout labor and birth. [verbatim from reVITALize] C90491 Pregnancy Outcome C90259 NICHD Terminology C92941 Latent Phase of Labor Latent Phase of Labor Early Labor From the onset of labor to the onset of the active phase. (reVITALize) From the onset of labor to the onset of the active phase. [verbatim from reVITALize] C92743 Labor C90259 NICHD Terminology C92943 Active Phase of Labor Active Phase of Labor Active Labor Accelerated cervical dilation typically beginning at 6 cm. Accelerated cervical dilation typically beginning at 6 cm. C92743 Labor C90259 NICHD Terminology C92945 Ovarian Pregnancy Ovarian Pregnancy An abnormal pregnancy in which the conception is implanted on the ovary. An abnormal pregnancy in which the conception is implanted on the ovary. C34945 Ectopic Pregnancy C90259 NICHD Terminology C92946 Tubal Pregnancy Tubal Pregnancy An abnormal pregnancy in which the conception is implanted in the fallopian tube. An abnormal pregnancy in which the conception is implanted in the fallopian tube. C34945 Ectopic Pregnancy C90259 NICHD Terminology C92947 Rh Immune Globulin Administration Rh Immune Globulin Administration Rho(D) Immune Globulin Administration The administration of Rh Immune Globulin to a pregnant mother to ameliorate the effects of conflicting Rh factors during pregnancy. C49236 Therapeutic Procedure C90259 NICHD Terminology C92950 Gonorrhea Gonorrhea GC A common sexually transmitted bacterial infection caused by Neisseria gonorrhoeae. It is transmitted through vaginal, oral, or anal intercourse. Infected individuals may be asymptomatic. Symptoms in males include burning sensation during urination, discharge from the penis, and painful swelling of the testes. Symptoms in females include painful urination, vaginal discharge, and vaginal bleeding between periods. If untreated, the infection may lead to pelvic inflammatory disease. A urogenital infection that is caused by Neisseria gonorrhoeae. C3365 Sexually Transmitted Infection C2890 Bacterial Infection C90259 NICHD Terminology C92954 Induced Abortion Procedure Induced Abortion Elective Abortion || Therapeutic Abortion A surgical or medical procedure that terminates a pregnancy by removing the products of conception. A surgical or medical procedure that ends a pregnancy by causing the removal or expulsion of the products of conception. C15332 Gynecologic Surgical Procedure C90259 NICHD Terminology C9298 Acute Undifferentiated Leukemia Acute Undifferentiated Leukemia Stem Cell Leukemia A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage. A rare acute leukemia in which the blasts do not express markers specific to myeloid or lymphoid lineage. C7464 Acute Leukemia of Ambiguous Lineage C90259 NICHD Terminology C93046 Gigantism Pituitary Gigantism A clinical finding indicating abnormal and excessive body growth and height resulting from the overproduction of human growth hormone. Extreme tall stature and other overgrowth manifestations due to increased growth hormone secretion while the skeletal growth plates are open. C36285 Endocrine System Finding C90259 NICHD Terminology C93047 Hypoxemia Hypoxemia A finding indicating decreased oxygen levels in the blood. A state of oxygen deficiency in arterial blood. C36292 Laboratory Test Result C90259 NICHD Terminology C9305 Malignant Neoplasm Cancer Malignancy || Malignant Growth || Malignant Neoplasm || Malignant Neoplastic Disease A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas, Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas. Uncontrolled growth of abnormal cells with potential for metastatic spread. C3262 Neoplasm C90259 NICHD Terminology C9306 Soft Tissue Sarcoma Soft Tissue Sarcoma A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones. A solid, malignant neoplasm originating in muscle, tendon, fat, blood vessels, nerves, connective or joint tissue. C9118 Sarcoma C90259 NICHD Terminology C93083 Lassitude Lassitude Physical or mental fatigue. Physical or mental fatigue. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C9309 Seminoma Seminoma A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes. A germinomatous germ cell tumor originating in the testis. C3708 Germ Cell Tumor C90259 NICHD Terminology C93213 Impulsive Behavior Impulsivity Initiation of actions without forethought as to the cost, results or consequences. Behavior characterized by reduced control, planning, or consideration of the consequences. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C93308 Percutaneous Endoscopic Tube Percutaneous Endoscopic Tube A hollow tube that is inserted into to the stomach through a surgical incision in the abdominal wall. C62103 Device C90259 NICHD Terminology C93310 Nasogastric Tube Nasogastric Tube A hollow tube that is directed into the stomach from the nose. C62103 Device C90259 NICHD Terminology C93322 Enteral Tube Feeding Enteral Tube Feeding Delivery of enteral nutrition via a tube placed into the stomach, duodenum, or jejunum. Delivery of enteral nutrition via a tube placed into the stomach, duodenum, or jejunum. C49236 Therapeutic Procedure C90259 NICHD Terminology C9357 Hodgkin Lymphoma Hodgkin Lymphoma Hodgkin's Disease || Hodgkin's Lymphoma A lymphoma, previously known as Hodgkin's disease, characterized by the presence of large tumor cells in an abundant admixture of nonneoplastic cells. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes. A malignant neoplasm of the lymphatic system that is comprised of abnormal lymphocytes and is characterized by the presence of Reed-Sternberg cells. C3208 Lymphoma C90259 NICHD Terminology C9381 Childhood Acute Myeloid Leukemia with Maturation Childhood Acute Myeloid Leukemia with Maturation An acute myeloid leukemia with maturation occurring in children. An acute myeloid leukemia with maturation occurring in children. C3250 Acute Myeloid Leukemia with Maturation C90259 NICHD Terminology C9385 Renal Cell Carcinoma Renal Cell Carcinoma A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy. A malignant neoplasm arising from the renal parenchyma. C9305 Cancer C90259 NICHD Terminology C94241 Compulsion Compulsive Behavior A series of actions or ritualistic behavior that is difficult to suppress and is performed to relieve or prevent anxiety. A series of actions or ritualistic physical or mental behavior that is difficult to suppress and is performed to relieve or prevent anxiety. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C943 Vitamin K Vitamin K The term "vitamin K" refers to a group of chemically similar fat-soluble compounds called naphthoquinones: vitamin K1 (phytonadione) is found in plants and is the primary source of vitamin K for humans through dietary consumption, vitamin K2 compounds (menaquinones) are made by bacteria in the human gut, and vitamin K3 (menadione) is a water-soluble preparation available for adults only. Vitamin K is necessary for the liver to produce the coagulation factors II, VII, IX, and X, as well as the clotting factors protein C, protein S, and protein Z; vitamin K deficiency can result in deficiencies of these coagulation factors and excess bleeding. An injection of vitamin K is routinely given to newborn infants to prevent vitamin K deficiency bleeding, also known as hemorrhagic disease of the newborn. Vitamin K deficiency is rare in adults but may result from chronic malnutrition or an inability to absorb dietary vitamins. C1909 Pharmacologic Substance C90259 NICHD Terminology C9438 Chronic Renal Failure Chronic Renal Failure Impairment of the renal function due to chronic kidney damage. Impairment of the renal function due to chronic kidney damage. C3149 Kidney Disease C90259 NICHD Terminology C94408 Folliculitis Folliculitis Inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds. Inflammation of the hair follicles. C3371 Skin Disorder C90259 NICHD Terminology C94475 Retching Retching Involuntary spasms of the stomach and esophagus resulting in vomiting or dry heaving. Involuntary spasms of the stomach and esophagus resulting in vomiting or dry heaving. C100104 Sign or Symptom C90259 NICHD Terminology C94546 Paranoia Paranoia An irrational fear of harm by others, or distrust of others. An irrational fear of harm by or distrust of others. C3858 Mental and Behavioral Signs and Symptoms C90259 NICHD Terminology C94575 Scarlet Fever Scarlet Fever A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever. An erythematous, fine, papular rash that is associated with Streptococcal pharyngitis. C2890 Bacterial Infection C90259 NICHD Terminology C9468 C3 Deficiency C3 Deficiency A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease. Lack of production of functional C3 protein, due to a genetic defect. Patients present at an early age with overwhelming infections with encapsulated bacteria. Patients may also present with systemic lupus erythematosus, autoimmune glomerulonephritis, or juvenile idiopathic arthritis-like syndromes. C4691 Complement Deficiency C90259 NICHD Terminology C9471 Childhood Systemic Anaplastic Large Cell Lymphoma Childhood Systemic Anaplastic Large Cell Lymphoma A systemic anaplastic large cell lymphoma that occurs during childhood. A systemic, anaplastic, large cell lymphoma that occurs during childhood. C5636 Childhood Anaplastic Large Cell Lymphoma C90259 NICHD Terminology C9476 Desmoplastic Infantile Astrocytoma Desmoplastic Infantile Astrocytoma A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO) A WHO grade I large cystic tumor that occurs almost exclusively in infants, and which involves the superficial cerebral cortex and leptomeninges. C124275 Childhood Astrocytoma C90259 NICHD Terminology C94830 Familial Isolated Hyperparathyroidism Familial Isolated Hyperparathyroidism FIHP A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors. Primary hyperparathyroidism of autosomal dominant or recessive inheritance, associated with mutation(s) in any of the following genes: MEN1 (encoding menin); CASR (extracellular calcium-sensing receptor); or CDC73 (parafibromin), although many cases have no identifiable mutation. C48259 Hyperparathyroidism C90259 NICHD Terminology C94832 Systemic Inflammatory Response Syndrome Systemic Inflammatory Response Syndrome SIRS A generalized state of dysregulated inflammation induced by noninfectious processes. It is characterized by two or more of the following signs and symptoms: fever or hypothermia, increased heart rate, increased respiratory rate, and abnormal white blood cell count. A generalized state of dysregulated inflammation characterized by two or more of the following signs and symptoms: fever or hypothermia, increased heart rate, increased respiratory rate, and abnormal white blood cell count. C9229 Systemic Disorder C90259 NICHD Terminology C94835 Normal Spontaneous Vaginal Delivery Normal Spontaneous Vaginal Delivery NSVD || Normal Delivery || Spontaneous Vaginal Birth Birth of the fetus through the vagina without the application of vacuum or forceps or any other instrument. (adapted from reVITALize) Birth of the fetus through the vagina without the application of vacuum or forceps or any other instrument. [adapted from reVITALize] C81303 Vaginal Delivery C90259 NICHD Terminology C94836 Parasomnia Parasomnia A group of sleep disorders causing disruption of sleep. Representative examples include nightmare disorders, sleep terror disorders, sleepwalking, and restless leg syndrome. Abnormal behavior or movements during sleep. C3376 Sleep Disorder C90259 NICHD Terminology C9503 Juvenile Breast Papillomatosis Juvenile Breast Papillomatosis Swiss Cheese Disease A benign, usually solitary, well circumscribed multicystic neoplasm that arises from the breast and typically affects young females. The cysts are lined by papillary proliferations that contain epithelial and myoepithelial layers. In a minority of cases, atypia may be present. A rare, localized, proliferative process in the breast, in which multiple peripheral papillomas are present (in peripheral ducts). It is a marker for familial breast cancer, and is associated with carcinoma in up to 15% of the cases. C3262 Neoplasm C90259 NICHD Terminology C95078 Sleepwalking Somnambulism Sleepwalking Repeated episodes of rising from bed and walking about during sleep; while sleepwalking, the individual has a blank stare and can be awakened only with great difficulty. On awakening, the individual has amnesia for the episode. Amnestic episodes of ambulation during sleep, during which the individual may unconsciously engage in other activities. C3376 Sleep Disorder C90259 NICHD Terminology C95401 Patient Reported Outcome Patient Reported Outcome PRO Information collected directly from a patient that typically includes subjective feelings regarding symptoms, functions in daily life, physical, mental, emotional, spiritual, and social well being, and satisfaction with his/her health care. Information collected directly from a patient that typically includes subjective feelings regarding symptoms, functions in daily life, physical, mental, emotional, spiritual, and social well being, and satisfaction with his/her health care. C3367 Finding C90259 NICHD Terminology C95408 Anticardiolipin Antibody Anticardiolipin Antibody ACA || aCL An autoantibody that reacts with cardiolipin. Different immunoglobulin subclasses and isotypes are associated with different diseases and conditions. Some anticardiolipin antibodies prolong phospholipid dependent clotting while others are associated with spontaneous abortion. An antiphospholipid autoantibody that reacts with cardiolipin. It can be associated with antiphospholipid antibody syndrome and system lupus erythematosus. C16295 Antibody C90259 NICHD Terminology C95504 Hemoglobin H Disease Hemoglobin H Disease A form of alpha thalassemia that results from reduced protein production from three of the four alpha-globin genes. Clinically it is characterized by chronic hemolytic anemia. A form of alpha thalassemia that results from reduced protein production from three of the four alpha-globin genes. Clinically it is characterized by chronic hemolytic anemia. C34368 Alpha Thalassemia C90259 NICHD Terminology C95534 Hemoglobin Trait Hemoglobin Trait A condition in which a person is heterozygous for a globin gene, with a one normal allele and one defective allele. A condition in which a person has a combination of normal and abnormal globin alleles with minimal or no clinical phenotype. C3092 Hemoglobinopathy C90259 NICHD Terminology C95535 Alpha Thalassemia Trait Alpha Thalassemia Trait A condition in which a person has reduced protein production from two of the four alpha-globin alleles. A condition in which a person has reduced protein production from two of the four alpha-globin genes. Newborn screening may be positive for Barts hemoglobin. C95534 Hemoglobin Trait C90259 NICHD Terminology C95536 Alpha Thalassemia Silent Carrier Alpha Thalassemia Silent Carrier A condition in which a person has reduced protein production from one of the four alpha-globin alleles. A condition in which a person has reduced protein production from one of the four alpha-globin genes. C95534 Hemoglobin Trait C90259 NICHD Terminology C95538 Beta Thalassemia Plus Structural Variants Beta Thalassemia Plus Structural Variants A heterozygous state in which a person has a mutation in a beta globin allele causing beta thalassemia, together with other structural variants in the other allele. A heterozygous state in which a person has a loss of function mutation in one beta globin allele together with an unstable variant in the other allele. C35069 Thalassemia C90259 NICHD Terminology C95539 Sickle Beta Thalassemia Sickle Beta Thalassemia Hb S-Beta Thalassemia || S-Beta Thalassemia || Sickle Cell-Beta-Thalassemia A heterozygous state in which a person has a hemoglobin S allele along with a beta-thalassemia allele. The severity of the condition is determined to a large extent by the quantity of normal hemoglobin produced by the beta-thalassemia gene. A heterozygous state in which a person has a hemoglobin S allele along with a beta-thalassemia allele. The severity of the condition is determined to a large extent by the quantity of normal beta-globin produced by the beta-thalassemia gene. C61237 Sickle Cell-Thalassemia C35069 Thalassemia C90259 NICHD Terminology C95598 Pancreatic Insulinoma Insulinoma An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin. A usually benign tumor of insulin secreting pancreatic beta cells, associated with hypoglycemia. C3009 Endocrine System Disorder C90259 NICHD Terminology C95802 Ischemic Cerebrovascular Accident Arterial Ischemic Stroke An acute episode of focal cerebral, spinal, or retinal dysfunction caused by infarction of brain tissue. Acute onset of neurological deficits resulting from a loss of blood supply to brain tissue in an area of arterial distribution. C3390 Cerebrovascular Accident C90259 NICHD Terminology C95803 Hemorrhagic Cerebrovascular Accident Hemorrhagic Cerebrovascular Accident Hemorrhagic Stroke An acute episode of focal or global cerebral or spinal dysfunction caused by intraparenchymal, intraventricular, or subarachnoid hemorrhage. Brain tissue necrosis due to a an intracerebral or subarachnoid bleed. C3390 Cerebrovascular Accident C90259 NICHD Terminology C95834 Congenital Heart Disease Congenital Heart Disease A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale. C35729 Congenital Cardiovascular Abnormality C90259 NICHD Terminology C96218 Skin Eschar Skin Eschar A crust that covers necrotic tissue in the skin that is caused by a burn or gangrene. A crust that covers necrotic tissue in the skin that is caused by a burn or gangrene. C100104 Sign or Symptom C90259 NICHD Terminology C96391 Meningococcal Conjugate Vaccine MCV4 Meningococcal Conjugate Vaccine MCV4 MCV4 || Meningococcal Conjugate Vaccine MCV-4 A conjugate vaccine of meningococcal polysaccharide used for active immunization against invasive meningococcal disease caused by Neisseria meningiditis serogroups A, C, Y, and W-135. C1455 Conjugate Vaccine C90259 NICHD Terminology C96394 Rotavirus Vaccine Rotavirus Vaccine A viral vaccine that prevents against rotavirus infection, the leading cause of severe acute gastroenteritis. C1920 Attenuated Live Virus Vaccine C90259 NICHD Terminology C96396 Yellow Fever Vaccine Yellow Fever Vaccine A live, attenuated viral vaccine to prevent yellow fever, endemic to parts of Africa and South America. C1920 Attenuated Live Virus Vaccine C90259 NICHD Terminology C96398 Toxoid Vaccine Toxoid Vaccine Any vaccine that contains an inactivated toxic substance used for disease prophylaxis or to vaccinate against snake bites. C923 Vaccine C90259 NICHD Terminology C96401 Oral Polio Vaccine Oral Polio Vaccine A vaccine that contains live attenuated polio virus. It is administered orally as polio prophylaxis in many areas of the world, but not in the U.S. since 2000. C1920 Attenuated Live Virus Vaccine C90259 NICHD Terminology C96402 Live Attenuated Influenza Vaccine Live Attenuated Influenza Vaccine LAIV || Nasal Spray Flu Vaccine A vaccine that contains live attenuated influenza virus (LAIV) particles. This vaccine is administered intranasally for influenza prophylaxis. Not all populations are good candidates for LAIV; the very young, elderly, asthmatics and those with health impaired may be better treated with the trivalent inactivated vaccine that is administered intramuscularly. C1920 Attenuated Live Virus Vaccine C90259 NICHD Terminology C96403 Measles/Mumps/Rubella Vaccine Measles/Mumps/Rubella Vaccine MMR || Measles Mumps Rubella Vaccine A trivalent vaccine containing live attenuated viruses that can cause measles, mumps and rubella. It is an injection administered subcutaneously in two separate doses. C1920 Attenuated Live Virus Vaccine C90259 NICHD Terminology C96405 Tetanus and Diphtheria Toxoids Adsorbed Tetanus and Diphtheria Toxoids Adsorbed Td A sterile, intramuscular suspension of alum (aluminum potassium sulfate)-precipitated toxoids indicated for active immunization for the prevention of tetanus and diphtheria for use in persons 7 years of age or older. C96398 Toxoid Vaccine C90259 NICHD Terminology C96406 Measles Measles Rubeola || Rubeola Infection A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR). A highly contagious infection that is caused by Rubeola (measles virus). Symptoms include coryza and fever followed by a descending, coalescing macular or maculopapular rash. C96411 Pediatric Viral Infection C90259 NICHD Terminology C96407 Varicella Zoster Infection Varicella Zoster Infection Varicella-Zoster Virus Infection A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox. A highly contagious viral infection that is caused by the varicella zoster virus; it clinically manifests as either shingles or chicken pox. C3439 Viral Infection C90259 NICHD Terminology C96408 Influenza Vaccination Influenza Vaccination The administration of live or attenuated influenza virus for the prophylaxis of influenza. C15258 Immunization C90259 NICHD Terminology C96409 Polio Vaccination Polio Vaccination The administration a series of either live or inactivated poliovirus for the prophylaxis of poliomyelitis. C15258 Immunization C90259 NICHD Terminology C96410 Dyslexia Dyslexia A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension. C89334 Learning Disorder C90259 NICHD Terminology C96411 Pediatric Viral Infection Pediatric Viral Infection A viral infection that occurs during infancy, childhood or adolescence. C89328 Pediatric Disorder C3439 Viral Infection C90259 NICHD Terminology C96412 Brain Development Abnormality Brain Development Abnormality A group of congenital or acquired disorders that affect the normal development of the brain. C89338 Neurodevelopmental Disorder C90259 NICHD Terminology C96413 Brain Disorder Brain Disorder A non-neoplastic or neoplastic disorder that affects the brain. C2934 Central Nervous System Disorder C90259 NICHD Terminology C96519 Meningococcal Polysaccharide Vaccine MPSV4 Meningococcal Polysaccharide Vaccine MPSV4 Meningococcal Polysaccharide Vaccine MPSV-4 A polysaccharide vaccine used to prevent contraction of meningococcal meningitis. C97125 Polysaccharide Vaccine C90259 NICHD Terminology C97045 Metabolic Bone Disorder Metabolic Bone Disease A group of disorders that affect the bones secondary to increased levels of minerals or deficient levels of minerals such as calcium, magnesium, phosphorus, and vitamin D. Representative examples are osteomalacia, osteoporosis, and Paget disease. C3235 Metabolic Disease C90259 NICHD Terminology C97058 Mixed Congenital Mesoblastic Nephroma Mixed Congenital Mesoblastic Nephroma A congenital mesoblastic nephroma characterized by the presence of classic and cellular areas. A congenital, mesoblastic nephroma that is characterized by the presence of classic and cellular areas. C6569 Congenital Mesoblastic Nephroma C90259 NICHD Terminology C97074 Hereditary Spherocytosis Hereditary Spherocytosis An autosomal dominant inherited disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes. It results in hemolytic anemia and splenomegaly. An autosomal dominant inherited disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes, resulting in hemolytic anemia and splenomegaly. Mutations in ANK1 account for over half of the cases. C101218 Hemolytic Anemia due to Erythrocyte Membrane Defect C90259 NICHD Terminology C97075 Hereditary Connective Tissue Disorder Hereditary Connective Tissue Disorder Connective Tissue Hereditary Disorder An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. C26729 Connective Tissue Disorder C90259 NICHD Terminology C97077 Funisitis Funisitis An acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid. A neutrophilic infiltrate arising from fetal vessels of the umbilical cord extending past the umbilical vessel wall into Wharton's Substance and oriented towards the amniotic cavity. C92719 Fetal Disorder C90259 NICHD Terminology C97090 Amino Acid Metabolism Disorder Amino Acid Metabolism Disorder Disorder of Amino Acid Metabolism An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C97092 Lipid Metabolism Disorder Lipid Metabolism Disorder An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C97093 Lipodystrophy Lipodystrophy Lipodsystrophic Syndromes A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body. A heterogenous group of disorders characterized by loss and/or redistribution of subcutaneous and/or visceral adipose tissue that may be partial or generalized, congenital or acquired. C3235 Metabolic Disease C90259 NICHD Terminology C97109 Blindness Blindness The lack of vision. It is caused by neurological or physiological factors. Profound visual impairment despite optimal refractive correction. C35126 Vision Disorder C90259 NICHD Terminology C97116 Attenuated Live Vaccine Attenuated Live Vaccine Any vaccine created by reducing the virulence of the infectious agent but still keeping the agent viable (live). In the production of an attenuated vaccine, the infectious agent is altered so that it becomes harmless or less virulent. This is in contrast to those vaccines produced by killing the pathogen (inactivated vaccine). C923 Vaccine C90259 NICHD Terminology C97120 Pneumococcal 10-valent Conjugate Vaccine Pneumococcal 10-valent Conjugate Vaccine PCV 10 An active immunizing vaccine used to prevent infection by the bacterium Streptococcus pneumoniae. It is indicated for disease caused by serotypes 1, 5, 4, 6B, 7, 9V, 14, 18C, 19F, and 23F. C97123 Pneumococcal Conjugate Vaccine C90259 NICHD Terminology C97121 Pneumococcal 13-valent Conjugate Vaccine Pneumococcal 13-valent Conjugate Vaccine PCV 13 A pneumococcal conjugate vaccine containing 13 different strains of the bacterium Streptococcus pneumoniae, used in children and studied in immunocompromised patients for the prevention of pneumococcal disease. The pneumococcal 13-valent conjugate vaccine contains capsular antigen polysaccharides derived from the S. pneumoniae serotypes 1, 3, 4, 5, 6A, 6B, 7F, 9V, 14, 18C, 19A, 19F and 23F that are individually conjugated to a nontoxic diphtheria cross-reactive material (CRM) carrier protein (CRM197). Upon vaccination, pneumococcal 13-valent conjugate vaccine induces active immunization against 13 different serotypes of S. pneumoniae and protects against pneumococcal disease. C97123 Pneumococcal Conjugate Vaccine C90259 NICHD Terminology C97122 Diphtheria Toxoid/Tetanus Toxoid/Inactivated Pertussis Vaccine Diphtheria Toxoid/Tetanus Toxoid/Inactivated Pertussis Vaccine DTP DTP A vaccine containing detoxified tetanus toxoid, detoxified diphtheria toxoid and inactivated pertussis antigens. C2848 Polyvalent Vaccine C90259 NICHD Terminology C97123 Pneumococcal Conjugate Vaccine Pneumococcal Conjugate Vaccine An active immunizing vaccine used to prevent infection by the bacterium Streptococcus pneumoniae. It consists of a solution of saccharides of the capsular antigens of Streptococcus serotypes individually conjugated to proteins. C1455 Conjugate Vaccine C90259 NICHD Terminology C97124 Bronchopulmonary Sequestration Bronchopulmonary Sequestration Congenital Sequestration of Lung || Sequestered Lobe (Pulmonary Sequestration) A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation. C98882 Congenital Lung Malformation C90259 NICHD Terminology C97125 Polysaccharide Vaccine Polysaccharide Vaccine A category of vaccines that use the extracted and purified outer polysaccharide coat of the particular bacteria. C923 Vaccine C90259 NICHD Terminology C97126 Ty21a Typhoid Vaccine Ty21a Typhoid Vaccine Ty21a A live attenuated bacteria oral vaccine used to prevent typhoid, which is caused by Salmonella typhi. C62761 Attenuated Bacteria Vaccine C90259 NICHD Terminology C97127 Vi Capsular Polysaccharide Typhoid Vaccine Vi Capsular Polysaccharide Typhoid Vaccine Vi || ViCPS A live attenuated bacteria injectable vaccine used to prevent typhoid, which is caused by Salmonella typhi. C97125 Polysaccharide Vaccine C90259 NICHD Terminology C97132 Chicken Pox Varicella Chickenpox A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications. Varicella zoster virus that is transmitted via respiratory secretions and vesicular skin lesions; clinical manifestations are fever and pruritic, vesicular skin rash ten to twenty-one days after exposure. Clinical complications (e.g., lung, liver and CNS) can occur, especially in immunocompromised individuals. C96411 Pediatric Viral Infection C96407 Varicella Zoster Infection C90259 NICHD Terminology C97136 Rosacea Rosacea Acne Rosacea A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids. A chronic dermatitis characterized by redness, flushing, pustules and papules on the face. C3371 Skin Disorder C90259 NICHD Terminology C97145 Orchitis Orchitis Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation. Inflammation of one or both testicles. C27019 Male Reproductive System Disorder C90259 NICHD Terminology C97151 Congenital Systemic Disorder Congenital Systemic Disorder An inherited disorder that presents with systemic manifestations. An inherited disorder that affects in multiple tissue types or in multiple organ systems, or affects the body as a whole. C2849 Congenital Malformation C90259 NICHD Terminology C97155 Language Disorder Language Disorder A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect. C92190 Pediatric Psychiatric Disorder C90259 NICHD Terminology C97159 Asperger Syndrome Asperger Syndrome A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism. C88412 Autism Spectrum Disorder C90259 NICHD Terminology C97160 Attention Deficit Hyperactivity Disorder Attention Deficit/Hyperactivity Disorder Attention Deficit Hyperactivity Disorder A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). At least some of the symptoms must be present before the age of 7 years. A neurodevelopmental disorder presenting in early childhood that is characterized by chronic and excessive inattention, overactivity, and/or impulsivity. C35470 Behavioral Disorder C90259 NICHD Terminology C97161 Autism Autism Autistic Disorder A disorder characterized by marked impairments in social interaction and communication accompanied by a pattern of repetitive, stereotyped behaviors and activities. Developmental delays in social interaction and language surface prior to age 3 years. A neurodevelopmental disorder presenting in early childhood that is characterized by impaired communication, difficulty in social interactions, stereotypic behaviors, and a limited range of interests and activities. C88412 Autism Spectrum Disorder C90259 NICHD Terminology C97162 Binge Eating Binge Eating Recurrent episodes of over-eating. Binge eating with or without purging. C89332 Eating Disorder C90259 NICHD Terminology C97163 Childhood Depression Childhood Depression Similar to depression in adults, childhood depression is characterized by a prolonged depressed or irritable mood accompanied by a significant loss of interest in activities, changes in appetite or sleep, decreased energy, feelings of worthlessness, and/or recurrent thoughts of death or suicide. C92190 Pediatric Psychiatric Disorder C90259 NICHD Terminology C97164 Childhood Disintegrative Disorder Childhood Disintegrative Disorder A pediatric disorder characterized by normal development for at least the first two years of life followed by a severe regression in language, social interaction, bowel or bladder control, and/or motor skills. The affected individual may also exhibit repetitive and stereotyped patterns of behavior similar to autism. A neurodevelopmental disorder that presents between the ages of two and ten, and is characterized by severe regression of communication, social interactions, bowel or bladder control, and/or motor skills that has previously developed normally. C97179 Pervasive Developmental Disorder C92190 Pediatric Psychiatric Disorder C90259 NICHD Terminology C97165 Dyscalculia Dyscalculia A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties. C89334 Learning Disorder C90259 NICHD Terminology C97166 Echolalia Echolalia A symptom of neurologic or psychiatric dysfunction in which the individual involuntarily and meaninglessly repeats a recently heard word, series of words, or a song. Involuntarily repeating of other peoples words. C97170 Central Auditory Processing Disorder C90259 NICHD Terminology C97167 Anemia of Prematurity Anemia of Prematurity A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition. A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months after birth. C2869 Anemia C104003 Congenital Hematological Disorder C90259 NICHD Terminology C97168 Ataxic Cerebral Palsy Ataxic Cerebral Palsy The least common subtype of cerebral palsy, in which the individual displays hypotonia, a loss of motor coordination, and an intention tremor. Individuals with ataxic cerebral palsy walk very unsteadily, with a wide-based gait. A type of cerebral palsy characterized by decreased muscle tone, a loss of motor coordination and an intention tremor. C34460 Cerebral Palsy C90259 NICHD Terminology C97169 Athetoid Cerebral Palsy Athetoid Cerebral Palsy A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating. A type of cerebral palsy characterized by involuntary, purposeless writhing movements that affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating. C34460 Cerebral Palsy C90259 NICHD Terminology C97170 Central Auditory Processing Disorder Central Auditory Processing Disorder A disorder characterized by impairment of the auditory processing, resulting in deficiencies in the recognition and interpretation of sounds by the brain. Causes include brain maturation delays and brain traumas or tumors. C97155 Language Disorder C90259 NICHD Terminology C97171 Congenital Digestive System Disorder Congenital Gastrointestinal Disorder Congenital Abnormality of the Digestive System An abnormality of the digestive system that is present at birth or detected in the neonatal period. C2849 Congenital Malformation C2990 Gastrointestinal Disorder C90259 NICHD Terminology C97172 Congenital Nervous System Disorder Congenital Nervous System Disorder Congenital Abnormality of the Nervous System An abnormality of the nervous system that is present at birth or detected in the neonatal period. C26835 Nervous System Disorder C2849 Congenital Malformation C90259 NICHD Terminology C97173 Congenital Respiratory System Disorder Congenital Respiratory System Disorder Congenital Abnormality of the Respiratory System An abnormality of the respiratory system that is present at birth or detected in the neonatal period. C26871 Respiratory System Disorder C2849 Congenital Malformation C90259 NICHD Terminology C97174 Congenital Skin Disorder Congenital Skin Disorder Congenital Abnormality of the Skin A skin abnormality that is present at birth or detected in the neonatal period. C3371 Skin Disorder C2849 Congenital Malformation C90259 NICHD Terminology C97175 Low Vision Low Vision Reduced ability to perceive visual stimuli. C35126 Vision Disorder C90259 NICHD Terminology C97177 Mixed Cerebral Palsy Mixed Cerebral Palsy A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy. A type of cerebral palsy characterized by both increased muscle tone and involuntary, purposeless writhing movements that affect the hands, feet, arms, and legs. C34460 Cerebral Palsy C90259 NICHD Terminology C97179 Pervasive Developmental Disorder Pervasive Developmental Disorder A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions. C96412 Brain Development Abnormality C90259 NICHD Terminology C97193 Panic Disorder without Agoraphobia Panic Disorder without Agoraphobia A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder. C2878 Anxiety Disorder C90259 NICHD Terminology C97194 Panic Disorder with Agoraphobia Panic Disorder with Agoraphobia A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder. C2878 Anxiety Disorder C90259 NICHD Terminology C97250 Intellectual Disability Intellectual Disability Intellectual Disabilities A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group. C96413 Brain Disorder C90259 NICHD Terminology C97984 Systemic Lupus Erythematosus Disease Activity Index Systemic Lupus Erythematosus Disease Activity Index SLEDAI A clinical index for the measurement of disease activity in systemic lupus erythematosus. The index utilizes 24 weighted variables that measure disease activity, damage from disease, and health status. A global index that evaluates disease activity and includes twenty-four items collecting specific manifestations in nine organ systems: neurological, musculoskeletal, renal, mucocutaneous, general, heart, respiratory, vascular, and hematological. These items are scored based on whether these manifestations are present or absent in a specified time period. Several versions of the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) are available. C20993 Clinical Assessment Tool C90259 NICHD Terminology C98273 Cerebral Atrophy Cerebral Atrophy Cortical Atrophy Atrophy of the cerebrum caused by focal or generalized neuronal loss. C96412 Brain Development Abnormality C90259 NICHD Terminology C98291 Gonadal Teratoma Gonadal Teratoma Teratoma, Gonads A teratoma that arises from the testis or ovary. C3403 Teratoma C90259 NICHD Terminology C98541 Chronic Lung Disorder Chronic Lung Disease A persistent non-neoplastic disorder of the lungs. Representative examples include: chronic obstructive pulmonary disease, chronic bronchitis, emphysema, pulmonary fibrosis, pneumoconiosis, asbestosis, atelectasis, radiation induced pneumonitis, and radiation fibrosis. Chronic lung disease (CLD) is a general term for long-term respiratory problems in premature babies. It is also known as bronchopulmonary dysplasia (BPD).Chronic lung disease is a condition in which damaged tissue in a newborn baby's lungs causes breathing and health problems. The lungs trap air or collapse, fill with fluid, and produce extra mucus. C3198 Lung Disorder C90259 NICHD Terminology C98573 Factor V Leiden Factor V Leiden Factor V Leiden Mutation An abnormality that refers to mutation of factor V Leiden, which is a variant of human factor V. It results in thrombophilia, deep vein thrombosis, and a slightly increased risk of miscarriage. C3101 Genetic Disorder C90259 NICHD Terminology C98576 Osteogenesis Imperfecta Type IV Osteogenesis Imperfecta Type IV A type of osteogenesis imperfecta that is characterized by fractures and hearing loss. It is more severe than type I and less severe than types II and III. C26837 Osteogenesis Imperfecta C90259 NICHD Terminology C98583 Type 1 Thanatophoric Dysplasia Type 1 Thanatophoric Dysplasia Thanatophoric Dysplasia, Type 1 Thanatophoric dysplasia characterized by a normally shaped skull and curved femurs. It is the most common type of thanatophoric dysplasia. C85187 Thanatophoric Dysplasia C90259 NICHD Terminology C98584 Type 2 Thanatophoric Dysplasia Type 2 Thanatophoric Dysplasia Thanatophoric Dysplasia, Type 2 Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs. C85187 Thanatophoric Dysplasia C90259 NICHD Terminology C98585 Total Anomalous Pulmonary Venous Return Total Anomalous Pulmonary Venous Return A rare congenital heart disorder in which all four pulmonary veins are not connected to the left atrium and drain into the systemic veins or the right atrium instead. Infants present with cyanosis, lethargy, tachypnea, respiratory infections, and poor growth. C99137 Great Vessels Abnormality C90259 NICHD Terminology C98590 Type I Total Anomalous Pulmonary Venous Return Type I Total Anomalous Pulmonary Venous Return TAPVR Type I || Total Anomalous Pulmonary Venous Return, Type I (Supracardiac) || Type I (Supracardiac) Total Anomalous Pulmonary Venous Return Total anomalous pulmonary venous return in which the pulmonary veins drain into the right atrium via the superior vena cava. Total Anomalous Pulmonary Venous Return (TAPVR) is a rare congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium by way of an abnormal (anomalous) connection. In type 1, supracardiac TAPVR, the pulmonary veins drain to the right atrium via the superior vena cava. In this type of TAPVR, the pulmonary veins come together behind the heart and then drain upwards to an abnormal vertical vein. This vein joins the innominate vein which connects to the right superior vena cava and drains to the right atrium. C98585 Total Anomalous Pulmonary Venous Return C90259 NICHD Terminology C98592 Type II Total Anomalous Pulmonary Venous Return Type II Total Anomalous Pulmonary Venous Return TAPVR Type II || Total Anomalous Pulmonary Venous Return, Type II (Intracardiac) || Type II (Intracardiac) Total Anomalous Pulmonary Venous Return Total anomalous pulmonary venous return in which the pulmonary veins drain into the right atrium via the coronary sinus. Total Anomalous Pulmonary Venous Return (TAPVR) is a rare congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium by way of an abnormal (anomalous) connection. In type 2, intracardiac TAPVR, the pulmonary veins come together behind the heart and then drains to the right atrium through the coronary sinus. The coronary sinus is the vein that normally returns blood from the heart muscle itself back to the right atrium after its oxygen has been depleted. The coronary sinus drains directly into the right atrium. C98585 Total Anomalous Pulmonary Venous Return C90259 NICHD Terminology C98597 Type III Total Anomalous Pulmonary Venous Return Type III Total Anomalous Pulmonary Venous Return TAPVR Type III || Total Anomalous Pulmonary Venous Return, Type III (Infradiaphragmatic/Infracardiac) || Type III (Infradiaphragmatic/Infracardiac) Total Anomalous Pulmonary Venous Return Total anomalous pulmonary venous return in which the common pulmonary vein connects to the portal venous system through the diaphragm. Total Anomalous Pulmonary Venous Return (TAPVR) is a rare congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium by way of an abnormal (anomalous) connection. In type 3, infracardiac TAPVR, the pulmonary veins drain to the right atrium via the hepatic (liver) veins and inferior vena cava. In this type, the pulmonary veins join together behind the heart and then typically drain downwards, connecting to the liver's portal vein system. They then drain through the vascular bed of the liver and enter the right atrium from the hepatic veins. C98585 Total Anomalous Pulmonary Venous Return C90259 NICHD Terminology C98598 Type IV Total Anomalous Pulmonary Venous Return Type IV Total Anomalous Pulmonary Venous Return TAPVR Type IV || Total Anomalous Pulmonary Venous Return, Type IV (Mixed) || Type IV (Mixed) Total Anomalous Pulmonary Venous Return Total anomalous pulmonary venous return in which the right and left pulmonary arteries drain into different sites. Total Anomalous Pulmonary Venous Return (TAPVR) is a rare congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium by way of an abnormal (anomalous) connection. In type 4, TAPVR, the right and left pulmonary arteries drain into different sites. C98585 Total Anomalous Pulmonary Venous Return C90259 NICHD Terminology C98602 TORCH Antibody Measurement TORCH Antibody Measurement Toxoplasmosis, Other Infections, Rubella, Cytomegalovirus, and Herpes Simplex Virus (TORCH) Antibody Panel Measurement A group of blood tests used to detect antibodies to Toxoplasma gondii, rubella, cytomegalovirus, and herpes simplex virus to rule out congenital infections. A group of other infections may be tested as well, including varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. C49286 Hematology Test C90259 NICHD Terminology C98609 TORCH Syndrome TORCH Infection TORCH Syndrome || Toxoplasmosis, Other Infections, Rubella, Cytomegalovirus, and Herpes Simplex Virus (TORCH) Syndrome A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly. An infection caused by bacteria, viruses or parasites transmitted directly from the mother to an embryo, fetus or neonate during pregnancy or childbirth. Clinical manifestations may include intrauterine growth restriction; a petechial rash, jaundice, hepatosplenomegaly; chorioretinitis, intracranial calcification and other abnormalities of the brain; and congenital heart defects. C3101 Genetic Disorder C26726 Infectious Disorder C90259 NICHD Terminology C98619 Parenteral Nutrition - Associated Cholestasis Parenteral Nutrition - Associated Cholestasis TPN Acquired Cholestasis || TPN Associated Cholestasis Cholestasis that results from prolonged total parenteral nutrition. It is caused by diminished bile flow from the liver into the duodenum. It may result in cirrhosis and liver failure. Preterm infants are most susceptible to liver damage. Diminished bile flow from the liver into the duodenum as a result of prolonged parenteral nutrition or total parenteral nutrition. C83006 Cholestasis C90259 NICHD Terminology C98622 Larnygeotracheoesophageal Cleft Larnygeotracheoesophageal Cleft Congenital Cleft Larynx || Tracheal Cleft A rare congenital abnormality in the laryngo-tracheal wall. It results from the incomplete development of the tracheoesophageal septum. Signs and symptoms include coughing, cyanosis, repeated pulmonary infections, and failure to gain weight. C97173 Congenital Respiratory System Disorder C90259 NICHD Terminology C98629 Tracheal Web Tracheal Web A rare congenital or acquired abnormality characterized by the presence of a web-like thin layer of tissue that narrows the lumen of the trachea. It may result in wheezing, dyspnea, and respiratory failure. C35079 Tracheal Disorder C90259 NICHD Terminology C98634 Tracheomalacia Tracheomalacia A congenital or acquired abnormality of the wall of the trachea. In congenital cases, there is lack of rigidity in the cartilage of the tracheal wall. In acquired cases, the cartilage of the tracheal wall is degenerated, secondary to tracheostomy or prolonged presence of a breathing tube, or as a complication of a tracheoesophageal fistula surgical repair. Symptoms include stridor, noisy breathing, and upper respiratory infections. C35079 Tracheal Disorder C90259 NICHD Terminology C98641 Tyrosinemia Type I Tyrosinemia Type I Tyrosinemia caused by mutations in the FAH gene. It is characterized by deficiency of the enzyme fumarylacetoacetate hydrolase. It is the most severe form of tyrosinemia. Signs and symptoms appear early in life and include failure to thrive, vomiting, diarrhea, jaundice, and bleeding tendency. It may result in liver and kidney failure. C97090 Amino Acid Metabolism Disorder C90259 NICHD Terminology C98642 Vein of Galen Malformation Vein of Galen Malformation An arteriovenous malformation in the vein of Galen that is located at the base of the brain. The malformation may result in developmental delays, hydrocephalus, seizures, and congestive heart failure. C35729 Congenital Cardiovascular Abnormality C90259 NICHD Terminology C98647 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency Very Long-Chain Acyl-CoA Dehydrogenase Deficiency VLCAD || Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency An autosomal recessive inherited disorder characterized by a deficiency of the enzyme very long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms may appear in infancy, early childhood, or later in life. Clinical manifestations in infancy include cardiomyopathy, arrhythmias, hypotonia, and hepatomegaly. Early childhood manifestations include hypoglycemia and hepatomegaly. Later-onset manifestations include muscle pain, cramps, and rhabdomyolysis. C34816 Congenital Metabolic Disorder C3492 Enzyme Deficiency C90259 NICHD Terminology C98661 Grade I Vesicoureteral Reflux Grade I Vesicoureteral Reflux Vesicoureteric Reflux, Grade I Vesicoureteral reflux in which there is urine reflux into the ureter only. Reflux that only fills the ureter without dilatation. C84467 Vesicoureteral Reflux C90259 NICHD Terminology C98662 Grade II Vesicoureteral Reflux Grade II Vesicoureteral Reflux Vesicoureteric Reflux, Grade II Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. There is no dilatation of the ureter and the calyces. Reflux that fills the ureter and collecting system without dilatation. C84467 Vesicoureteral Reflux C90259 NICHD Terminology C98663 Grade III Vesicoureteral Reflux Grade III Vesicoureteral Reflux Vesicoureteric Reflux, Grade III Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Mild dilatation of the ureter and the calyces is present. Reflux that fills and mildly dilates the ureter and collecting system with mild blunting of the calyces. C84467 Vesicoureteral Reflux C90259 NICHD Terminology C98664 Grade IV Vesicoureteral Reflux Grade IV Vesicoureteral Reflux Vesicoureteric Reflux, Grade IV Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Moderate dilatation of the ureter and the calyces is present. Reflux that fills and grossly dilates the ureter and collecting system with blunting of the calyces. Some tortuosity of the ureter is also present. C84467 Vesicoureteral Reflux C90259 NICHD Terminology C98665 Grade V Vesicoureteral Reflux Grade V Vesicoureteral Reflux Vesicoureteric Reflux, Grade V Vesicoureteral reflux in which there is urine reflux into the ureter and renal pelvis. Severe tortuosity and dilatation of the ureter and the calyces are present. Massive reflux that grossly dilates the ureter and collecting system. All of the calyces are blunted with a loss of papillary impression, and intrarenal reflux may be present. There is significant ureteral dilation and tortuosity. C84467 Vesicoureteral Reflux C90259 NICHD Terminology C98670 Werdnig-Hoffmann Disease Werdnig-Hoffmann Disease The most severe form of spinal muscular atrophy. It is manifested in the first year of life with muscle weakness, poor muscle tone, and lack of motor development. The motor neuron death affects the major organ systems, particularly the respiratory system. Most patients die before the age of two secondary to pneumonia. C85075 Spinal Muscular Atrophy C90259 NICHD Terminology C98674 Methylcrotonyl-CoA Carboxylase Deficiency Methylcrotonyl-CoA Carboxylase Deficiency An autosomal recessive inherited disorder caused by mutations in the MCCC1 or MCCC2 genes. It is characterized by a deficiency in an enzyme that is involved in the metabolism of proteins that contain leucine. Signs and symptoms range from mild to severe and include feeding difficulties, vomiting, diarrhea, developmental delays, lethargy, seizures and coma. C3101 Genetic Disorder C3492 Enzyme Deficiency C90259 NICHD Terminology C98683 3-Methylglutaconic Aciduria Type 1 3-Methylglutaconic Aciduria Type 1 3-methylglutaconic aciduria inherited in an autosomal recessive pattern and caused by mutations in the AUH gene. Signs and symptoms include psychomotor developmental abnormalities, speech delay, weakness and spasm of the extremities, dystonia, and metabolic acidosis. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C98699 5 Alpha Steroid Reductase 2 Deficiency 5 Alpha Steroid Reductase 2 Deficiency 3-Oxo-5 Alpha-Steroid Delta 4-Dehydrogenase Deficiency An autosomal recessive inherited disorder caused by mutations in the SRD5A2 gene. It is characterized by deficiency of the enzyme steroid 5-alpha reductase 2 that catalyzes the conversion of testosterone to dihydrotestosterone. It results in disruption of the formation of male genitalia. Patients present with pseudohermaphroditism. C3101 Genetic Disorder C3492 Enzyme Deficiency C90259 NICHD Terminology C98701 Abdominal Aorta Thrombosis Abdominal Aorta Thrombosis Formation of blood clot in the lumen of the abdominal aorta. It may lead to severe abdominal pain and ischemic necrosis of the intestine. C26891 Thrombosis C90259 NICHD Terminology C98802 Acquired Cataract Acquired Cataract Cataract that results from the aging process, an injury, or as a manifestation of a systemic disorder. C26713 Cataract C90259 NICHD Terminology C98803 Acquired Hydrocephalus Acquired Hydrocephalus Hydrocephalus that results from head trauma, brain tumors, intracranial hemorrhage, or meningitis. An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that is acquired after birth. C3111 Hydrocephalus C90259 NICHD Terminology C98804 Acquired Chylothorax Acquired Chylothorax Chylothorax that results from malignancies (usually lymphoma), trauma to the thoracic duct, tuberculosis, or sarcoidosis. C79546 Chylothorax C90259 NICHD Terminology C98805 Acquired Methemoglobinemia Acquired Methemoglobinemia Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene) and nitrate-rich foods. Methemoglobinemia that is caused by exposure to certain drugs, including dapsone and xylocaine, and nitrate-rich foods. C34817 Methemoglobinemia C90259 NICHD Terminology C98806 Acquired Rickets Acquired Rickets Rickets that is caused by vitamin D deficiency, hypocalcemia, or renal failure. C26878 Rickets C90259 NICHD Terminology C98808 Adrenal Hemorrhage Adrenal Hemorrhage Hemorrhage and necrosis of the adrenal gland tissue. Bilateral and extensive hemorrhage may lead to acute adrenal insufficiency, shock, and death. C26791 Hemorrhage C90259 NICHD Terminology C98809 Alveolar Capillary Dysplasia Alveolar Capillary Dysplasia A rare lethal congenital abnormality that refers to the abnormal development of the capillaries around the alveoli in the lung parenchyma. It manifests as respiratory distress and persistent pulmonary hypertension in infancy. C98882 Congenital Lung Malformation C90259 NICHD Terminology C98810 Ambiguous Genitalia Atypical Genitalia A rare congenital abnormality in which the infant's external genitalia do not have the typical appearance of a male's or female's genitalia. External genitalia that are neither typically male nor typically female in appearance. C103185 Congenital Reproductive System Abnormality C90259 NICHD Terminology Ambiguous Genitalia C98811 Anasarca Anasarca A condition that is characterized by the presence of generalized edema. Causes include congestive heart failure, liver failure, renal failure, and severe malnutrition. Profound accumulation of an excessive amount of fluid throughout the body. C3002 Edema C90259 NICHD Terminology C98813 Annular Pancreas Annular Pancreas A rare congenital abnormality in which the duodenum is surrounded by a ring of pancreatic tissue. It may result in constriction of the duodenum and feeding intolerance. C97171 Congenital Gastrointestinal Disorder C90259 NICHD Terminology C98814 Anophthalmos Anophthalmos A rare congenital abnormality characterized by the complete absence of ocular tissue in the orbit. C26767 Eye Disorder C2849 Congenital Malformation C90259 NICHD Terminology C98815 Antithrombin III Deficiency Antithrombin III Deficiency A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism. A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism. C2902 Coagulation Disorder C90259 NICHD Terminology C98816 Apgar Score at One Minute Apgar Score At 1 Minute The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at one minute after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. C73437 Apgar Score C90259 NICHD Terminology C98817 Apgar Score at Ten Minutes Apgar Score At 10 Minutes The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at ten minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. C73437 Apgar Score C90259 NICHD Terminology C98818 Aortic Valve Atresia Aortic Valve Atresia Congenital Atresia of Aortic Valve A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure. C95834 Congenital Heart Disease C90259 NICHD Terminology C98819 Apgar Score at Fifteen Minutes Apgar Score At 15 Minutes The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at fifteen minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. C73437 Apgar Score C90259 NICHD Terminology C98820 Apgar Score at Twenty Minutes Apgar Score At 20 Minutes The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at twenty minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. C73437 Apgar Score C90259 NICHD Terminology C98821 Apgar Score at Five Minutes Apgar Score At 5 Minutes The numerical sum between zero and ten that is computed from individual values of zero to two that are assigned to five different areas of interest in newborn screenings at five minutes after birth. These areas are breathing, muscle tone, pulse rate, reflex irritability and skin color. C73437 Apgar Score C90259 NICHD Terminology C98822 Aplasia Cutis Congenita Aplasia Cutis Congenita Localized or widespread congenital absence of skin. The lesions most frequently occur in the scalp, are well demarcated, may be superficial or deep, and are not associated with inflammation. C97174 Congenital Skin Disorder C90259 NICHD Terminology C98823 Apnea of Prematurity Apnea of Prematurity The cessation of breathing in premature infants that lasts for more than 15-20 seconds. Any cessation of breathing in an infant less than 37 weeks gestational age that persists for at least 20 seconds or is accompanied by bradycardia and/or blood oxygen desaturation. C26698 Apnea C97173 Congenital Respiratory System Disorder C90259 NICHD Terminology C98824 Aprosencephaly Aprosencephaly A very rare congenital brain defect in which the cerebral cortex, striatum, globus pallidus, thalamus, hypothalamus, and eyes are absent or rudimentary. C97172 Congenital Nervous System Disorder C90259 NICHD Terminology C98826 Arterial Thrombosis Arterial Thrombosis Formation of a blood clot in the lumen of an artery. C26891 Thrombosis C90259 NICHD Terminology C98827 Large Intestine Atresia Large Intestine Atresia Atresia of Large Intestine A malformation characterized by the absence of a normal opening in a part of the large intestine. C97171 Congenital Gastrointestinal Disorder C90259 NICHD Terminology C98828 Small Intestine Atresia Small Intestine Atresia Atresia of Small Intestine A congenital malformation characterized by the absence of a normal opening in a part of the small intestine. C97171 Congenital Gastrointestinal Disorder C90259 NICHD Terminology C98830 Ladd Band Ladd Band Band of Ladd || Ladd's Band The presence of peritoneal attachments (bands) that obstruct the duodenum. The attachments result from malrotation of the large intestine. This abnormality is manifested with severe vomiting soon after birth or after the first feeding of the infant. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C98835 Sickle Beta 0 Thalassemia Sickle Beta 0 Thalassemia Sickle Beta Zero Thalassemia A form of sickle cell thalassemia characterized by the absence of hemoglobin A. Patients usually have severe anemia identical to that seen in sickle cell disease. A form of sickle cell thalassemia characterized by the presence of hemoglobin S and the absence of hemoglobin A. Patients usually have a more severe clinical phenotype, identical to that seen in sickle cell disease. C61237 Sickle Cell-Thalassemia C90259 NICHD Terminology C98837 Sickle Beta Plus Thalassemia Sickle Beta Plus Thalassemia A mild form of sickle cell thalassemia characterized by the presence of hemoglobin S and a small amount of hemoglobin A in the red blood cells. It is characterized by the presence of small red blood cells and mild anemia. A mild form of sickle cell thalassemia characterized by the presence of hemoglobin S and a small amount of hemoglobin A in the erythrocytes. It is characterized by the presence of small erythrocytes and milder clinical phenotype. C61237 Sickle Cell-Thalassemia C90259 NICHD Terminology C98840 Benign Congenital Hypotonia Benign Congenital Hypotonia Mild hypotonia that usually appears early in infancy and has a favorable outcome. It is not a manifestation of another disorder that may cause hypotonia (e.g., cerebral palsy or muscular dystrophy). A mild decrease in muscle tone, which is not a manifestation of another disorder that may cause hypotonia, that usually appears early in infancy and has a favorable outcome. C87070 Hypotonia C90259 NICHD Terminology C98841 Beta-Ketothiolase Deficiency Beta-Ketothiolase Deficiency BKT A rare autosomal recessive inherited disorder caused by mutations in the ACAT1 gene. It is characterized by the reduction or elimination of the enzyme mitochondrial acetoacetyl-CoA thiolase which is responsible for the metabolism of the amino acid isoleucine and ketone-body metabolism. Signs and symptoms appear early in life and include vomiting, dehydration, breathing difficulties, seizures, lethargy, and coma. C101334 Organic Acid Metabolism Disorder C90259 NICHD Terminology C98842 Holocarboxylase Synthetase Deficiency Holocarboxylase Synthetase Deficiency Neonatal Multiple Carboxylase Deficiency A rare autosomal recessive inherited disorder caused by mutations in the HLCS gene. It is characterized by deficiency of the enzyme holocarboxylase synthetase which facilitates the effective use of the vitamin biotin in the body. Signs and symptoms appear early in life and include breathing difficulties, feeding difficulties, alopecia, skin rash, and lethargy. Lifelong administration of biotin supplements is required. If it is not treated properly, it may lead to developmental delays, seizures, and coma. C3492 Enzyme Deficiency C90259 NICHD Terminology C98846 Breast Milk Jaundice Breastmilk Jaundice Breast Milk Jaundice || Neonatal Jaundice due to Delayed Conjugation from Breast Milk Inhibitors Jaundice in an otherwise healthy breast-fed newborn. It appears four to seven days after birth, lasts longer than the physiologic jaundice, and there are no identifiable causes. Yellow coloring of skin, mucous membranes and eyes in an otherwise healthy breast-fed newborn. It commonly appears one to two weeks after birth and lasts longer than physiologic jaundice. C99246 Neonatal Jaundice C90259 NICHD Terminology C98847 Bronchomalacia Bronchomalacia A congenital or acquired abnormality of the wall of the bronchi. In congenital cases, there is lack of rigidity in the cartilage of the bronchial wall. In acquired cases, the cartilage of the bronchial wall is degenerated, secondary to tracheostomy or presence of a breathing tube. Symptoms include noisy breathing and wheezing. Increased bronchial collapsibility. C98541 Chronic Lung Disease C90259 NICHD Terminology C98848 Congenital Bundle of His Tachycardia Congenital Bundle of His Tachycardia Congenital His Bundle Tachycardia || Junctional Ectopic Tachycardia, Congenital A congenital disorder characterized by an electrocardiographic finding of tachycardia that affects neonates and infants. It results from an increased automaticity in the atrioventricular node and His bundle. C110938 Tachyarrhythmia C90259 NICHD Terminology C98863 Butyryl-CoA Dehydrogenase Deficiency Butyryl-CoA Dehydrogenase Deficiency A rare autosomal recessive inherited disorder caused by mutations in the ACADSB gene. It is characterized by deficiency of the enzyme 2-methylbutyryl-CoA dehydrogenase which is involved in the metabolism of isoleucine. Signs and symptoms include vomiting, lethargy, irritable mood, and developmental delays. It may also lead to breathing difficulties, seizures, and coma. C3492 Enzyme Deficiency C90259 NICHD Terminology C98864 Primary Carnitine Deficiency Primary Carnitine Deficiency Carnitine Deficiency || Renal Carnitine Transport Defect An autosomal recessive inherited disorder caused by mutations in the SLC22A5 gene. It is characterized by the presence of a defective protein called OCTN2 which is involved in the transportation of carnitine into the cells. This abnormality results in reduced energy production and accumulation of fatty acids in the tissues. Clinical manifestations of confusion, muscle weakness, hypoglycemia, encephalopathy and cardiomyopathy may be exacerbated during fasting. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C98871 Carnitine Palmitoyltransferase I Deficiency Carnitine Palmitoyltransferase I Deficiency A rare autosomal recessive inherited disorder caused by mutations in the CPT1A gene. It is characterized by the presence of defective carnitine palmitoyltransferase 1A which is involved in fatty acid oxidation. Signs and symptoms may be exacerbated during fasting and include hypoketotic hypoglycemia, increased levels of carnitine in the blood, hepatomegaly, seizures, and coma. C3492 Enzyme Deficiency C90259 NICHD Terminology C98873 Type II Acrocephalopolysyndactyly Type II Acrocephalopolysyndactyly Acrocephalopolysyndactyly Type II || Carpenter 's Syndrome || Carpenter Syndrome An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation. An autosomal recessive syndrome due to mutation(s) in the RAB23 gene, encoding RAB23, member of the RAS oncogene family and the MEGF8 gene, encoding multiple EGF like domains 8. This condition is characterized by growth failure and craniosynostosis leading to acrocephaly, brachydactyly with syndactly, congenital heart defects, hypogonadism, and obesity. *Check with Liz about this phrasing. Something seems off to me about this, but as this is her expertise not mine, I shall defer to her. C34348 Acrocephalosyndactyly C90259 NICHD Terminology C98874 Myelocele Myelocele Herniation of spinal cord tissue through a defect in a region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface. C101214 Spina Bifida C90259 NICHD Terminology C98875 Cervical Myelocele Cervical Myelocele Herniation of spinal cord tissue and meninges through a defect in the cervical region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface. C98874 Myelocele C90259 NICHD Terminology C98876 Congenital Hydrocephalus Congenital Hydrocephalus Hydrocephalus that is present at birth. An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that is present at birth. C3111 Hydrocephalus C97172 Congenital Nervous System Disorder C90259 NICHD Terminology C98878 Coloboma of the Eyelid Coloboma of Eyelid A congenital abnormality in which a part of the upper or lower eyelid tissue is missing. C99208 Eye Finding C90259 NICHD Terminology C98879 Coloboma of the Iris Coloboma of Iris A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris. C99208 Eye Finding C90259 NICHD Terminology C98880 Persistent Truncus Arteriosus Persistent Truncus Arteriosus Common Truncus Arteriosus A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death. C95834 Congenital Heart Disease C90259 NICHD Terminology C98882 Congenital Lung Malformation Congenital Lung Malformation Congenital Abnormality of Lung A malformation in the lung that is present at birth. Representative examples include pulmonary hypoplasia, pulmonary agenesis, congenital lobar emphysema, and alveolar capillary dysplasia. C97173 Congenital Respiratory System Disorder C90259 NICHD Terminology C98885 Congenital Urinary System Abnormality Congenital Urinary System Abnormality Congenital Abnormality of the Urinary System An abnormality of the kidney, ureter, bladder, or urethra that is present at birth. Representative examples include renal hypoplasia, renal agenesis, accessory kidney, absence of ureter, atresia of bladder neck, and atresia of urethra. C3430 Urinary System Disorder C35107 Congenital Genitourinary Abnormality C90259 NICHD Terminology C98886 Congenital Vena Cava Abnormality Congenital Vena Cava Abnormality Congenital Abnormality of Vena Cava An abnormality of the superior or inferior vena cava that is present at birth. Representative examples include persistent left superior vena cava, absence of infrarenal inferior vena cava, or absence of the entire inferior vena cava. C99137 Great Vessels Abnormality C90259 NICHD Terminology C98888 Congenital Cataract Congenital Cataract Cataract that is present at birth. C2849 Congenital Malformation C26713 Cataract C90259 NICHD Terminology C98889 Congenital Central Hypoventilation Congenital Central Hypoventilation A disorder characterized by hypoventilation and hypoxemia. It appears early in life and is not associated with cardiopulmonary or neuromuscular abnormalities. C3101 Genetic Disorder C90259 NICHD Terminology C98890 Congenital Cerebellar Hypoplasia Congenital Cerebellar Hypoplasia Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures. C97172 Congenital Nervous System Disorder C90259 NICHD Terminology C98891 Congenital Chylothorax Congenital Chylothorax Chylothorax that is present at birth. C79546 Chylothorax C97173 Congenital Respiratory System Disorder C90259 NICHD Terminology C98892 Congenital Cystic Adenomatoid Malformation of the Lung Congenital Cystic Adenomatoid Malformation of Lung A congenital malformation that is present in the lungs of the newborn. It is characterized by a spectrum of lesions that range from single or multiple cysts to bulky overgrowth of bronchiole-like structures. Signs and symptoms include respiratory distress, recurrent pulmonary infections, dyspnea, and failure to thrive. C98882 Congenital Lung Malformation C90259 NICHD Terminology C98893 Congenital Diaphragmatic Hernia Congenital Diaphragmatic Hernia Diaphragmatic hernia that is present at birth. C34687 Diaphragmatic Hernia C89337 Congenital Musculoskeletal Defect C90259 NICHD Terminology C98894 Hypoplastic Left Heart Syndrome Hypoplastic Left Heart Syndrome A rare congenital cardiovascular disorder characterized by severe underdevelopment of the left side of the heart. Signs and symptoms include tachypnea, cyanosis, dyspnea, and lethargy. C3101 Genetic Disorder C95834 Congenital Heart Disease C90259 NICHD Terminology C98895 Congenital Lobar Emphysema Congenital Lobar Emphysema A rare abnormality in the lungs that is present at birth. It is characterized by hyperinflation of one or more lobes of the lungs. Signs and symptoms appear early in life and include dyspnea, wheezing, and cyanosis. C98882 Congenital Lung Malformation C90259 NICHD Terminology C98897 Thumb Hypoplasia Thumb Hypoplasia Congenital Malformation of Thumb A congenital abnormality characterized by hypoplasia or absence of the thumb. It may be associated with other congenital abnormalities. C89337 Congenital Musculoskeletal Defect C90259 NICHD Terminology C98898 Congenital Methemoglobinemia Congenital Methemoglobinemia Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present. Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present. C34817 Methemoglobinemia C104003 Congenital Hematological Disorder C90259 NICHD Terminology C98900 Sacral Myelocele Sacral Myelocele Herniation of spinal cord tissue and meninges through a defect in the sacral region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface. C98874 Myelocele C90259 NICHD Terminology C98901 Ureterovesical Obstruction Ureterovesical Obstruction Ureterovesico Junction Obstruction || Vesicoureteral Obstruction Blockage of the opening between the ureter and the bladder resulting in the reduction or prevention of the urine flow from the ureter to the bladder. Complete or partial blockage of the ureter at the point where it enters the bladder. C79805 Urinary Tract Obstruction C90259 NICHD Terminology C98902 Levo-Transposition of the Great Arteries Levo-Transposition of the Great Vessels L-Transposition of the Great Vessels An acyanotic congenital cardiovascular abnormality characterized by the transposition of the aorta and the pulmonary artery. C84742 Transposition of Great Vessels C90259 NICHD Terminology C98903 Conjoined Twins Conjoined Twins A monoamniotic twin gestation in which the twins share one or more organs. A monoamniotic twin gestation in which the twins share one or more organs. C90491 Pregnancy Outcome C90259 NICHD Terminology C98905 Corpus Callosum Agenesis Corpus Callosum Agenesis Agenesis of Corpus Callosum A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment. C97172 Congenital Nervous System Disorder C90259 NICHD Terminology C98906 Fetal Warfarin Syndrome Fetal Warfarin Syndrome Fetal Coumadin Syndrome A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly. A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly. C92719 Fetal Disorder C90259 NICHD Terminology C98907 Craniorachischisis Craniorachischisis A rare and severe form of neural tube defect in which there are open cranial and open spinal defects at birth. C84923 Neural Tube Defect C90259 NICHD Terminology C98908 Cryptophthalmos Syndrome Cryptophthalmos Syndrome A rare, genetically heterogenous syndrome, characterized by cryptophthalmos, craniofacial abnormalities, urogenital abnormalities, and syndactyly. C26767 Eye Disorder C2849 Congenital Malformation C90259 NICHD Terminology C98910 Cytochrome-C Oxidase Deficiency Cytochrome-C Oxidase Deficiency A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis. C3492 Enzyme Deficiency C90259 NICHD Terminology C98911 Decreased Bone Density Decreased Bone Density A laboratory finding indicating the presence of lower than normal bone mineral density. C110937 Musculoskeletal Finding C90259 NICHD Terminology C98912 Diaphragmatic Eventration Diaphragmatic Eventration A congenital or acquired abnormality characterized by elevation of the hemidiaphragm. C89337 Congenital Musculoskeletal Defect C90259 NICHD Terminology C98913 Diastematomyelia Diastematomyelia A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida. C97172 Congenital Nervous System Disorder C90259 NICHD Terminology C98914 Discordant Ventriculoarterial Connection Discordant Ventriculoarterial Connection A rare congenital cardiovascular abnormality in which the aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle. C95834 Congenital Heart Disease C90259 NICHD Terminology C98915 Duplex Kidney Duplex Kidney Double Kidney || Double Renal Pelvis A congenital abnormality of the kidney characterized by the presence of two separate pelvicocaliceal systems with a single or duplex ureter. C98885 Congenital Urinary System Abnormality C90259 NICHD Terminology C98916 Double Outlet Right Ventricle Double Outlet Right Ventricle A rare congenital cardiovascular abnormality in which both the aorta and the pulmonary artery arise from the right ventricle. C95834 Congenital Heart Disease C90259 NICHD Terminology C98917 Duplicated Ureter Duplicated Ureter Double Ureter || Duplex Collecting System A congenital abnormality characterized by the presence of two separate ureters draining a kidney. A condition in which there are two partial or complete ipsilateral ureters from a single kidney. C98885 Congenital Urinary System Abnormality C90259 NICHD Terminology C98918 Duodenal Web Duodenal Web Partial or complete obstruction of the duodenal lumen due to the presence of a membranous web. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C98919 Ear Tag Ear Tag Periauricular Tag A small preauricular skin tag. C100104 Sign or Symptom C90259 NICHD Terminology C98920 Encephalomalacia Encephalomalacia Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation. C96413 Brain Disorder C90259 NICHD Terminology C98921 Endemic Cretinism Endemic Cretinism Severely reduced physical and mental growth associated with pyramidal and extrapyramidal signs and symptoms, due to dietary iodine deficiency. C3009 Endocrine System Disorder C90259 NICHD Terminology C98922 Endocardial Fibroelastosis Endocardial Fibroelastosis A rare disorder characterized by diffuse thickening of the endocardium. It presents with unexplained heart failure. C3079 Heart Disorder C90259 NICHD Terminology C98923 Epispadias Epispadias A rare congenital abnormality that mostly affects males. In males, it is characterized by the presence of the urethral opening in the dorsal surface of the penis. In females, this abnormality is even rarer and is characterized by the presence of an elongated urethra that has developed too far anteriorly. A congenital condition in which the urethra fails to develop properly, and the opening of the urethra is located on the dorsum of the penis. C98885 Congenital Urinary System Abnormality C90259 NICHD Terminology C98924 Esophageal Duplication Esophageal Duplication Congenital Duplication of Esophagus A congenital abnormality characterized by the presence of a duplicated segment of the esophagus. The duplicated segment may by tubular or cystic. C97171 Congenital Gastrointestinal Disorder C90259 NICHD Terminology C98925 Esophageal Web Esophageal Web A thin membrane that is present in the esophageal lumen. It is composed of mucosa and submucosa and it may be associated with Plummer-Vinson syndrome. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C98926 Fetal Heart Rhythm Fetal Heart Rhythm The recurrent, measured movements (rhythm) of a beating heart in a fetus. The recurrent, measured movements (rhythm) of a beating heart in a fetus. C92715 Fetal Heart Finding C90259 NICHD Terminology C98927 Fetal Hydantoin Syndrome Fetal Hydantoin Syndrome Dilantin Embryopathy || Phenytoin Embryopathy A teratogenic disorder observed in a newborn or child of a mother who was exposed to phenytoin during pregnancy. Manifestations include dysmorphic craniofacial features, hypoplastic distal phalanges and nails, growth delay and delayed psychomotor development. A teratogenic disorder observed in a newborn or child of a mother who was exposed to phenytoin during pregnancy. Manifestations include dysmorphic craniofacial features, hypoplastic distal phalanges and nails, growth delay and delayed psychomotor development. C92719 Fetal Disorder C90259 NICHD Terminology C98928 Fetal Methotrexate Syndrome Fetal Methotrexate Syndrome A teratogenic disorder observed in a newborn or child of a mother who was exposed to methotrexate during pregnancy. Manifestations of the syndrome include craniofacial, digital, and skeletal malformations. A teratogenic disorder observed in a newborn or child of a mother who was exposed to methotrexate during pregnancy. Manifestations of the syndrome include craniofacial, digital, and skeletal malformations. C92719 Fetal Disorder C90259 NICHD Terminology C98929 Fetal Retinoid Syndrome Fetal Retinoid Syndrome Fetal Isotretinoin Syndrome || Retinoic Acid Embryopathy A teratogenic disorder observed in a newborn or child of a mother who was exposed to retinoids during pregnancy. Manifestations include growth delay, skull, facial, heart, and central nervous system malformations. A teratogenic disorder observed in a newborn or child of a mother who was exposed to retinoids during pregnancy. Manifestations include growth delay, skull, facial, heart, and central nervous system malformations. C92719 Fetal Disorder C90259 NICHD Terminology C98930 Fetal Valproate Syndrome Fetal Valproate Syndrome A teratogenic disorder observed in a newborn or child of a mother who was exposed to valproic acid during pregnancy. Manifestations include musculoskeletal abnormalities, intellectual disability, spina bifida, and distinctive facial features. A teratogenic disorder observed in a newborn or child of a mother who was exposed to valproic acid during pregnancy. Manifestations include musculoskeletal abnormalities, intellectual disability, spina bifida, and distinctive facial features. C92719 Fetal Disorder C90259 NICHD Terminology C98931 Freeman-Sheldon Syndrome Freeman-Sheldon Syndrome A rare syndrome that is inherited in an autosomal dominant or recessive pattern and caused by mutations in the MYH3 gene. It is a severe form of arthrogryposis. It is characterized by the presence of distinctive facial features (small mouth, midface hypoplasia, short nose, drooping of the eyelids, deep folds in the area between the nose and the lips, and strabismus), joint deformities that lead to permanently bent fingers and toes, club foot, scoliosis, and walking difficulties. C84572 Arthrogryposis C3101 Genetic Disorder C90259 NICHD Terminology C98932 Fryns Syndrome Fryns Syndrome A rare syndrome inherited in an autosomal recessive pattern. It is characterized by the presence of diaphragmatic defects, distinctive facial features (hypertelorism, low-set ears, flat nasal bridge, and micrognathia), distal digital hypoplasia, lung hypoplasia, and brain, gastrointestinal, and cardiovascular malformations. C3101 Genetic Disorder C90259 NICHD Terminology C98933 Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency G-6-PD Variant Enzyme Deficiency Anemia || G6PD || G6PD Deficiency An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs. An X-linked recessive disorder caused by mutations in the G6PD gene. It is characterized by subnormal activity of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia, usually in response to infection or exposure to food, drugs, or other substances. C131630 Anemia due to Erythrocyte Enzyme Disorder C34384 Anemia due to Disorder of Glutathione Metabolism C90259 NICHD Terminology C98934 Harlequin Ichthyosis Harlequin Ichthyosis A very rare and usually lethal autosomal recessive inherited disorder of the skin caused by mutations in the ABCA12 gene. It is characterized by the presence of hard and thick skin. There are diamond-like plates formed in the skin which are separated by fissures. C97174 Congenital Skin Disorder C3101 Genetic Disorder C90259 NICHD Terminology C98935 Cardiac Monitoring Cardiac Monitoring The act of observing and recording the heart rate for determining the baseline values and any variations or other abnormal tracings. C18020 Diagnostic Procedure C90259 NICHD Terminology C98936 Hematochezia Hematochezia Bloody Stool The passage of fresh blood from the anus. The blood is usually seen in the stools. The most common cause is lower gastrointestinal tract hemorrhage. The presence of fresh blood mixed in the fecal matter; usually as a result of lower gastrointestinal tract hemorrhage. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C98937 Hereditary Factor I Deficiency Hereditary Factor I Deficiency An inherited blood coagulation disorder characterized by the partial or complete absence of fibrinogen in the blood, resulting in bleeding. An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of fibrinogen (factor I) activity in the blood. C98942 Hereditary Coagulation Factor Deficiency C90259 NICHD Terminology C98938 Hereditary Factor V Deficiency Hereditary Factor V Deficiency A very rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor V, resulting in bleeding. An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of factor V activity in the blood. C98942 Hereditary Coagulation Factor Deficiency C90259 NICHD Terminology C98939 Hereditary Factor VII Deficiency Hereditary Factor VII Deficiency A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor VII, resulting in bleeding. An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood. C98942 Hereditary Coagulation Factor Deficiency C131631 Factor VII Deficiency C90259 NICHD Terminology C98940 Hereditary Factor X Deficiency Hereditary Factor X Deficiency A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor X, resulting in bleeding. An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of factor X activity in the blood. C98942 Hereditary Coagulation Factor Deficiency C131632 Factor X Deficiency C90259 NICHD Terminology C98941 Hereditary Factor XIII Deficiency Hereditary Factor XIII Deficiency A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor XIII, resulting in bleeding. An autosomal recessive, inherited coagulation disorder characterized by the partial or complete absence of factor XIII activity in the blood. C98942 Hereditary Coagulation Factor Deficiency C131633 Factor XIII Deficiency C90259 NICHD Terminology C98942 Hereditary Coagulation Factor Deficiency Hereditary Coagulation Factor Deficiency An inherited blood coagulation disorder characterized by deficiency of one of the coagulation factors, resulting in bleeding. An inherited coagulation disorder characterized by deficiency of one of the coagulation factors. C104003 Congenital Hematological Disorder C27215 Coagulation Factor Deficiency C90259 NICHD Terminology C98943 Hereditary Pyropoikilocytosis Hereditary Pyropoikilocytosis An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency. An autosomal recessive disorder that produces a molecular defect in spectrin and a partial spectrin deficiency. It manifests as a severe hemolytic anemia in infancy with thermal instability of the erythrocytes. It is clinically similar to, and now considered a subtype of, homozygous hereditary elliptocytosis. C35882 Hereditary Elliptocytosis C104003 Congenital Hematological Disorder C90259 NICHD Terminology C98944 Hereditary Orotic Aciduria Hereditary Orotic Aciduria An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine. C3101 Genetic Disorder C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C98945 Hiatal Hernia Hiatal Hernia Herniation of the upper part of the stomach through the diaphragm. C34687 Diaphragmatic Hernia C90259 NICHD Terminology C98946 High Molecular Weight Kininogen Deficiency High Molecular Weight Kininogen Deficiency A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis. An autosomal recessive, inherited disorder characterized by deficiency of high molecular weight kininogen. Its clinical features include prolonged partial thromboplastin time and absence of bleeding diathesis. C104003 Congenital Hematological Disorder C27215 Coagulation Factor Deficiency C90259 NICHD Terminology C98947 Horseshoe Kidney Horseshoe Kidney A congenital abnormality in which the two kidneys fuse together during fetal development to create a horseshoe-shaped structure. A renal anomaly characterized by fusion across the midline of two distinct and functional kidneys that are connected at the lower poles. C98885 Congenital Urinary System Abnormality C90259 NICHD Terminology C98948 Congenital H-Type Tracheoesophageal Fistula Congenital H-type Tracheoesophageal Fistula Congenital tracheoesophageal fistula without esophageal atresia. C35080 Tracheoesophageal Fistula C97171 Congenital Gastrointestinal Disorder C90259 NICHD Terminology C98949 Hydranencephaly Hydranencephaly A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor. C97172 Congenital Nervous System Disorder C90259 NICHD Terminology C98950 Hyperammonemia Hyperammonemia Elevated Ammonia Level A laboratory test result demonstrating an increased concentration of ammonia in the blood. A laboratory test result demonstrating an increased concentration of ammonia in the blood. C27120 Electrolyte Disorder C90259 NICHD Terminology C98952 Hypertrophic Pyloric Stenosis Hypertrophic Pyloric Stenosis Congenital Constriction of the Pylorus || Congenital Hypertrophy of the Pylorus || Congenital Pyloric Stenosis || Congenital Stricture of the Pylorus || Infantile Constriction of the Pylorus || Infantile Hypertrophy of the Pylorus || Infantile Pyloric Stenosis || Infantile Stricture of the Pylorus An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration. Narrowing of the pyloric channel, the opening from the stomach to the duodenum, caused by enlargement and thickening of the circular muscular layer surrounding this opening. C34966 Pyloric Stenosis C90259 NICHD Terminology C98953 Ileal Web Ileal Web The formation of tissue in the lumen of the ileum that results in partial obstruction. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C98955 Infant of Diabetic Mother Infant of Diabetic Mother IDM || Syndrome of Infant of Diabetic Mother An infant that was born to a mother who persistently had high glucose blood levels during pregnancy. The infants of diabetic mothers are large for their gestational age and may develop hypoglycemic episodes soon after birth. C98996 Neonatal Disorder C90259 NICHD Terminology C98957 Cutaneous Fistula Cutaneous Fistula Dermal Fistula || Dermal Fistula or Sinus || Fistula of Skin || Skin Sinus An abnormal communication between the skin and another organ or cavity. C3045 Fistula C3371 Skin Disorder C90259 NICHD Terminology C98958 Interrupted Aortic Arch Interrupted Aortic Arch A rare congenital cardiovascular disorder characterized by the presence of a gap between the ascending and descending portions of the thoracic aorta. This disorder is often associated with ventricular septal defect, ductus arteriosus, or truncus arteriosus. C99137 Great Vessels Abnormality C90259 NICHD Terminology C98960 Intestinal Duplication Intestinal Duplication Congenital Duplication of Intestine || Duplication of Bowel A rare congenital abnormality characterized by the presence of a duplicated segment of the intestine. The duplicated segment is cystic. C97171 Congenital Gastrointestinal Disorder C90259 NICHD Terminology C98961 Intestinal Malrotation Intestinal Malrotation Congenital Malrotation of Intestine A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction. C97171 Congenital Gastrointestinal Disorder C90259 NICHD Terminology C98962 Intestinal Stricture Intestinal Stricture Stricture of Intestine Fibrosis of the wall of a segment of the intestine that leads to intestinal lumen narrowing. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C98963 Intestinal Volvulus Intestinal Volvulus Twisting of a loop of bowel that results in intestinal obstruction. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C98964 Isovaleric Acidemia Isovaleric Acidemia Isovaleryl-CoA Dehydrogenase Deficiency A rare autosomal recessive inherited disorder caused by mutations in the IVD gene. It is characterized by abnormalities in the metabolism of leucine. Signs and symptoms vary from very mild to life threatening and include vomiting, seizures, lethargy, and coma. C3101 Genetic Disorder C101334 Organic Acid Metabolism Disorder C90259 NICHD Terminology C98966 Jejunal Web Jejunal Web The formation of tissue in the lumen of the jejunum that results in partial obstruction. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C98967 Klippel-Feil Syndrome Klippel-Feil Sequence A rare congenital syndrome characterized by the fusion of the vertebrae in the cervical spine. Patients present with a short neck and restricted mobility of the upper spine. Other signs and symptoms include scoliosis, spina bifida, cleft palate, and rib malformations. C3101 Genetic Disorder C90259 NICHD Terminology C98968 Lacrimal Mucocele Lacrimal Mucocele A congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction. C26809 Lacrimal System Disorder C90259 NICHD Terminology C98969 Lactic Acidosis Lactic Acidosis Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia. C27120 Electrolyte Disorder C90259 NICHD Terminology C98970 Laryngeal Web Laryngeal Web Tissue that develops between the vocal cords. C45233 Respiratory System Finding C90259 NICHD Terminology C98971 Laryngomalacia Laryngomalacia Increased collapsibility of the larynx. An abnormality characterized by softening of the laryngeal cartilage typically presenting with stridor. C97173 Congenital Respiratory System Disorder C90259 NICHD Terminology C98972 Laryngeal Atresia Laryngeal Atresia Congenital Atresia of Larynx A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation. Laryngeal atresia is a congenital failure of the laryngeal opening to develop, resulting in partial or total obstruction at or just above or below the glottis. C97173 Congenital Respiratory System Disorder C90259 NICHD Terminology C98974 Lithium Induced Birth Defect Lithium-Induced Birth Defects Congenital abnormalities, mainly cardiovascular malformations, which develop in a fetus when the mother uses lithium medication during pregnancy. C92719 Fetal Disorder C90259 NICHD Terminology C98975 Low Anorectal Malformation Low Anorectal Malformation Congenital malformations in the anorectal region that include the perineal fistula, anteriorly placed anus, and anorecto-vestibular fistula. C97171 Congenital Gastrointestinal Disorder C90259 NICHD Terminology C98976 Lumbar Myelocele Lumbar Myelocele Herniation of spinal cord tissue and meninges through a defect in the lumbar region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface. C98874 Myelocele C90259 NICHD Terminology C98978 Meckel-Gruber Syndrome Meckel-Gruber Syndrome A rare, lethal, autosomal recessive inherited syndrome characterized by pulmonary hypoplasia, central nervous system malformations, and hepatic malformations. C3101 Genetic Disorder C90259 NICHD Terminology C98979 Meconium Ileus Meconium Ileus Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine. Small intestinal obstruction that results from the impaction of abnormally tenacious meconium in the terminal ileum. Commonly associated with cystic fibrosis. C37979 Ileus C90259 NICHD Terminology C98980 Meconium Plug Syndrome Meconium Plug Syndrome Functional Immaturity of Colon || Meconium Plug A transient colonic dysfunction in the newborn characterized by the delayed passage of meconium and associated intestinal dilatation. A transient disorder of the newborn colon characterized by the delayed passage of meconium and intestinal dilatation. C2990 Gastrointestinal Disorder C90259 NICHD Terminology C98981 Pneumomediastinum Pneumomediastinum Mediastinal Emphysema The presence of air in the mediastinum. It is caused by injury, most often esophageal or intestinal perforation. Mediastinal emphysema is a condition in which air is present in the mediastinum. It can result from physical trauma or other situations that lead to air escaping from the lungs, airways or bowel into the chest cavity. C3671 Injury C90259 NICHD Terminology C98982 MMIH Syndrome MMIH Syndrome Megacystis, Microcolon, Hypoperistalsis Syndrome || Megacystis, Microcolon, Intestinal Hypoperistalsis Syndrome A rare syndrome characterized by the presence of an enlarged and weak bladder (megacystis), a very small large intestine (microcolon), and weak small intestine that does not function properly (hypoperistalsis). It is caused by a disorder of the smooth muscles of the abdomen and gastrointestinal tract. C3101 Genetic Disorder C90259 NICHD Terminology C98983 Melnick-Fraser Syndrome Branchio-oto-renal Syndrome Melnick-Fraser Syndrome An autosomal dominant inherited syndrome caused by mutations in the EYA1, SIX1, and SIX5 genes. It is characterized by the abnormal development of the second branchial arch, resulting in the formation of branchial cleft cysts and fistulae, hearing loss and ear malformations, and renal abnormalities. A hereditary disorder caused by mutations in the EYA1 gene, which is characterized by hearing loss, structural defects of the ear, branchial fistulas or cysts, and early, progressive chronic renal failure. C3101 Genetic Disorder C90259 NICHD Terminology C98985 Metabolic Myopathy Metabolic Myopathy A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction. C34816 Congenital Metabolic Disorder C101216 Myopathy C90259 NICHD Terminology C98986 Methylmalonic Acidemia Methylmalonic Acidemia A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease. C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C98987 Microcolon Microcolon A rare congenital abnormality characterized by the presence of an abnormally small colon. It is the result of intestinal underutilization during fetal development. C97171 Congenital Gastrointestinal Disorder C90259 NICHD Terminology C98988 Microgyria Microgyria A congenital abnormality characterized by the presence of abnormally small convolutions in the brain. It results in mental retardation. C97172 Congenital Nervous System Disorder C90259 NICHD Terminology C98989 Microphthalmos Microphthalmos A congenital abnormality characterized by the presence of an abnormally small eye globe. C26767 Eye Disorder C2849 Congenital Malformation C90259 NICHD Terminology C98990 Neuronal Migration Disorder Neuronal Migration Abnormalities Migration Defects || Neuronal Migration Disorder A diverse group of congenital brain developmental disorders characterized by defects in neuronal migration in the brain during early fetal development. The neuronal migration defects result in brain abnormalities that are usually manifested with mental retardation and epilepsy. A developmental brain abnormality characterized by abnormal migration of neurons during cortical development. C96412 Brain Development Abnormality C97172 Congenital Nervous System Disorder C90259 NICHD Terminology C98991 Mitochondrial Trifunctional Protein Deficiency Mitochondrial Trifunctional Protein Deficiency A rare, autosomal recessive inherited disorder caused by mutations in the HADHA and HADHB genes. It is characterized by the deficiency of an enzyme involved in the fatty acid oxidation process. Signs and symptoms may appear early or later in life and may be triggered by periods of fasting or illnesses. They include feeding difficulties, lethargy, hypoglycemia, hypotonia, liver abnormalities, heart abnormalities, peripheral neuropathy, coma, and sudden death. C3101 Genetic Disorder C90259 NICHD Terminology C98992 Mitral Valve Atresia Mitral Valve Atresia Congenital Atresia of Mitral Valve A congenital heart defect characterized by the complete atresia of the mitral valve. A congenital defect where the valve (mitral) which connects the two chambers on the left side of the heart (atrium and ventricle) is closed off. The blood is unable to flow between the two heart chambers. C95834 Congenital Heart Disease C90259 NICHD Terminology C98993 Monosomy 13q Syndrome Monosomy 13q Syndrome A rare syndrome that is characterized by the partial deletion of the long arm of chromosome 13. Signs and symptoms include low birth weight, craniofacial malformations, hands and feet malformations, and mental and psychomotor retardation. C2950 Chromosomal Abnormality C90259 NICHD Terminology C98994 NADH Dehydrogenase Deficiency NADH Dehydrogenase Deficiency NADH Dehydrogenase (Ubiquinone) Deficiency || NADH-CoQ Reductase (Complex I) Deficiency A rare metabolic disorder characterized by the deficiency of mitochondrial NADH dehydrogenase component of complex I. Signs and symptoms include cardiomyopathy, encephalopathy, enlarged head, and progressive leukodystrophy. C3492 Enzyme Deficiency C90259 NICHD Terminology C98995 Neonatal Thrombocytopenia Neonatal Thrombocytopenia A condition characterized by a decrease in the number of platelets in the blood below established reference ranges in a newborn. A condition characterized by a decrease in the number of platelets in the blood below established reference ranges in a newborn. C3408 Thrombocytopenia C98996 Neonatal Disorder C90259 NICHD Terminology C98996 Neonatal Disorder Neonatal Disorder A non-neoplastic or neoplastic disorder which occurs during the neonatal period. An abnormal condition that occurs during the 28 days following birth. C89328 Pediatric Disorder C90259 NICHD Terminology C98997 Omphalocele Omphalocele Congenital Omphalocele A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac. C89337 Congenital Musculoskeletal Defect C90259 NICHD Terminology C98999 Optic Nerve Hypoplasia Optic Nerve Hypoplasia Hypoplasia of the Optic Nerve A congenital abnormality characterized by the underdevelopment of the optic nerve. C97172 Congenital Nervous System Disorder C90259 NICHD Terminology C99000 Orbital Cellulitis Orbital Cellulitis Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary. An infection of the orbital tissue, posterior to the orbital septum. C26715 Cellulitis C90259 NICHD Terminology C99001 Osteogenesis Imperfecta Type II Osteogenesis Imperfecta Type II A severe form of osteogenesis imperfecta. It is characterized by bone deformities, multiple fractures, underdeveloped lungs, and often death during or after birth due to respiratory abnormalities. C26837 Osteogenesis Imperfecta C90259 NICHD Terminology C99002 Osteogenesis Imperfecta Type III Osteogenesis Imperfecta Type III A type of osteogenesis imperfecta characterized by bone fractures, bone deformities, short stature, poor muscle development, barrel-shaped chest, and triangular face. C26837 Osteogenesis Imperfecta C90259 NICHD Terminology C99003 Osteogenesis Imperfecta Type I Osteogenesis Imperfecta Type I The mildest and most common type of osteogenesis imperfecta. It is characterized by bone fractures, muscle weakness, and loose joints. Bone deformities are either absent or minimal. C26837 Osteogenesis Imperfecta C90259 NICHD Terminology C99004 Partial Anomalous Pulmonary Venous Return Partial Anomalous Pulmonary Venous Return Partial Anomalous Pulmonary Venous Connection A congenital heart disorder in which one or two pulmonary veins are not connected to the left atrium and drain into the right atrium instead. It may lead to arrhythmias and pulmonary hypertension. C98585 Total Anomalous Pulmonary Venous Return C90259 NICHD Terminology C99005 Patent Urachus Patent Urachus A congenital abnormality that results from the failure of the lumen of urachus to be obliterated. It presents with leakage of urine from the bladder through the umbilicus. A persistent opening between the bladder and the umbilicus through the urachus. C98885 Congenital Urinary System Abnormality C90259 NICHD Terminology C99006 Pelvic Kidney Pelvic Kidney Congenital Pelvic Kidney A congenital abnormality characterized by the failure of the kidney to ascend to its normal position and it remains in the pelvis. C98885 Congenital Urinary System Abnormality C90259 NICHD Terminology C99007 Pelviureteric Junction Obstruction Pelviureteric Junction Obstruction Obstruction of Pelviureteric Junction || Ureteropelvic Junction Obstruction A usually congenital abnormality characterized by the partial obstruction of the junction between the renal pelvis and ureter. It may lead to hydronephrosis. Complete or partial blockage of the ureter at the point where it enters the kidney. C79805 Urinary Tract Obstruction C90259 NICHD Terminology C99008 Pena-Shokeir Syndrome Pena-Shokeir Syndrome Pena-Shokeir Phenotype An autosomal recessive inherited disorder. It is characterized by arthrogryposis, facial anomalies, polyhydramnios, camptodactyly, intrauterine growth retardation, and pulmonary hypoplasia. Pulmonary hypoplasia is present in the vast majority of cases and is often the fatal component of this syndrome. C3101 Genetic Disorder C90259 NICHD Terminology C99009 Penile Agenesis Penile Agenesis Aphallus || Congenital Absence of Penis An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities. C103185 Congenital Reproductive System Abnormality C27019 Male Reproductive System Disorder C90259 NICHD Terminology C99010 Penoscrotal Transposition Penoscrotal Transposition Congenital Penoscrotal Transposition A rare congenital abnormality characterized by the partial or complete transposition of the penis and scrotum. In cases of complete penoscrotal transposition, the scrotum is positioned anteriorly and above the penis. It may be associated with other congenital abnormalities. C103185 Congenital Reproductive System Abnormality C27019 Male Reproductive System Disorder C90259 NICHD Terminology C99011 Pentalogy of Cantrell Pentalogy of Cantrell A rare syndrome characterized by the presence of omphalocele, anterior diaphragmatic hernia, sternal cleft, ectopia cordis, and ventricular septal defect or left ventricle diverticulum. C97151 Congenital Systemic Disorder C90259 NICHD Terminology C99012 Pneumoperitoneum Pneumoperitoneum Free air within the peritoneal cavity. Free air within the peritoneal cavity. C3368 Gastrointestinal System Signs and Symptoms C90259 NICHD Terminology C99013 Periventricular Leukomalacia Periventricular Leukomalacia PVL Necrosis and softening of the white matter around the ventricles in the brain. It is usually seen in preterm infants and caused by lack of blood flow and oxygenation in the periventricular brain parenchyma. A form of cerebral white matter injury usually seen in preterm infants that is characterized by necrotic degeneration or gliosis of white matter adjacent to the cerebral ventricles, that may evolve into focal cysts. C98920 Encephalomalacia C90259 NICHD Terminology C99014 Persistent Cloaca Persistent Cloaca A congenital abnormality in which the rectum, vagina, and urethra fuse and form a common channel. C97151 Congenital Systemic Disorder C90259 NICHD Terminology C99015 Phosphoenolpyruvate Carboxykinase Deficiency Phosphoenolpyruvate Carboxykinase Deficiency Phosphoenolpyruvate Carboxykinase (GTP) Deficiency A very rare, autosomal recessive inherited disorder caused by deficiency of the enzyme phosphoenolpyruvate carboxykinase, which is involved in gluconeogenesis. It presents with hypoglycemia, failure to thrive, metabolic acidosis, muscle weakness, and hepatomegaly. C3101 Genetic Disorder C3492 Enzyme Deficiency C90259 NICHD Terminology C99016 Phrenic Nerve Injury Phrenic Nerve Injury Damage to the phrenic nerve. Damage to the phrenic nerve, resulting in paralysis of the ipsilateral hemidiaphragm. C3671 Injury C90259 NICHD Terminology C99017 Phrenic Nerve Palsy Phrenic Nerve Palsy Intermittent, incomplete or complete paralysis with or without tremors to any of the organs or body parts innervated by the phrenic nerve. A condition characterized by reduced or absent movement of the ipsilateral diaphragm as a consequence of an injury to the phrenic nerve or its origin in cervical roots 3 through 5. C27580 Peripheral Nervous System Disorder C90259 NICHD Terminology C99018 Plethoric Face Plethoric Face A finding that refers to a person with erythematous face. C100104 Sign or Symptom C90259 NICHD Terminology C99019 Pneumopericardium Pneumopericardium The presence of air in the pericardial cavity. Causes include chest injury in adults, and respiratory distress syndrome in infants. C100104 Sign or Symptom C90259 NICHD Terminology C99020 Porencephalic Cyst Porencephalic Cyst A congenital or acquired cystic cavity within the cerebral hemisphere. Cystic area of encephalomalacia that is the end result of a destructive process such as intraparenchymal hemorrhage, infection or trauma. C2978 Cyst C90259 NICHD Terminology C99021 Posterior Urethral Valve Posterior Urethral Valve Congenital Posterior Urethral Valves A developmental abnormality characterized by the presence of an obstructing membrane in the posterior urethra of the male newborn. It results in bladder obstruction. Complete or partial blockage of the posterior portion of the urethra caused by obstructing leaflets. C98885 Congenital Urinary System Abnormality C90259 NICHD Terminology C99022 Prekallikrein Deficiency Prekallikrein Deficiency A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease. C27215 Coagulation Factor Deficiency C34816 Congenital Metabolic Disorder C90259 NICHD Terminology C99024 Premature Closure of Ductus Arteriosus Premature Closure of Ductus Arteriosus Ductus Arteriosus Premature Closure || Premature Closure of the Ductus Arteriosus Closure of the ductus arteriosus prior to birth. Closure of the ductus arteriosus prior to birth. C99137 Great Vessels Abnormality C35729 Congenital Cardiovascular Abnormality C90259 NICHD Terminology C99025 Protein C Deficiency Disease Protein C Deficiency Disease A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism. A thrombophilia disorder characterized by deficiency of protein C; it results in venous thromboembolism. C84479 Thrombophilia C103172 Congenital Bleeding Disorder C90259 NICHD Terminology C99026 Protein S Deficiency Disease Protein S Deficiency Disease A rare thrombophilia disorder characterized by deficiency of protein S. It results in venous thromboembolism. A thrombophilia disorder characterized by deficiency of protein S; it results in venous thromboembolism. C84479 Thrombophilia C103172 Congenital Bleeding Disorder C90259 NICHD Terminology C99027 Pseudohypoparathyroidism Pseudohypoparathyroidism A condition characterized by the insensitivity of the tissues to respond to the activity of the parathyroid hormone. It results in increased levels of parathyroid hormone in the serum, hypocalcemia, and hyperphosphatemia. C3009 Endocrine System Disorder C90259 NICHD Terminology C99028 Pulmonary Agenesis Pulmonary Agenesis Congenital Absence of Lung An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities. C98882 Congenital Lung Malformation C90259 NICHD Terminology C99029 Pulmonary Arteriovenous Fistula Pulmonary Arteriovenous Fistula Arteriovenous Fistula of Pulmonary Vessels || Pulmonary AV Fistula || Pulmonary Arteriovenous Malformation A congenital or acquired malformation characterized by abnormal communication between the pulmonary arteries and pulmonary veins in the lungs. C3045 Fistula C35729 Congenital Cardiovascular Abnormality C90259 NICHD Terminology C99031 Pulmonary Valve Atresia Pulmonary Valve Atresia Congenital Atresia of the Pulmonary Valve || Pulmonary Atresia A congenital heart defect characterized by complete atresia of the pulmonary valve. It is manifested during infancy with cyanosis, dyspnea, and tachypnea. C95834 Congenital Heart Disease C90259 NICHD Terminology C99032 Pulmonary Valve Atresia with Intact Ventricular Septum Pulmonary Valve Atresia with Intact Ventricular Septum Pulmonary Atresia with Intact Ventricular Septum Pulmonary valve atresia not associated with a ventricular septal defect. C99031 Pulmonary Valve Atresia C90259 NICHD Terminology C99033 Pulmonary Valve Atresia with Ventricular Septal Defect Pulmonary Valve Atresia with Ventricular Septal Defect Pulmonary Atresia with Ventricular Septal Defect Pulmonary valve atresia associated with the presence of a large ventricular septal defect. It may be a severe form of tetralogy of Fallot. C99031 Pulmonary Valve Atresia C90259 NICHD Terminology C99034 Congenital Pulmonary Lymphangiectasia Congenital Pulmonary Lymphangiectasia Congenital Pulmonary Lymphangiectasis A congenital abnormality in the lungs characterized by the presence of dilated lymphatic vessels in the interlobar, perivascular, and peribronchial areas of the lungs. Signs and symptoms appear at birth and include tachypnea, cyanosis, and respiratory distress. C98882 Congenital Lung Malformation C90259 NICHD Terminology C99036 Pulmonary Vein Stenosis Pulmonary Vein Stenosis Obstruction of the pulmonary vein in one or multiple sites. The obstruction is the result of wall thickening and narrowing of the lumen of the vein. C99137 Great Vessels Abnormality C90259 NICHD Terminology C99037 Pyruvate Kinase Deficiency Pyruvate Kinase Deficiency Hemolytic Anemia due to Pyruvate Kinase Deficiency An inherited metabolic disorder characterized by the deficiency of the erythrocyte enzyme pyruvate kinase. It results in the development of hemolytic anemia. An autosomal recessive disorder caused by mutations of the PKLR gene. It is the most common inherited cause of non-spherocytic hemolytic anemia. C97090 Amino Acid Metabolism Disorder C131630 Anemia due to Erythrocyte Enzyme Disorder C90259 NICHD Terminology C99038 Radial Aplasia-Thrombocytopenia Syndrome Radial Aplasia-Thrombocytopenia Syndrome TAR Syndrome || Thrombocytopenia-Absent Radius Syndrome A rare syndrome characterized by the presence of thrombocytopenia associated with bilateral absence of the radius bone. A rare syndrome characterized by the presence of thrombocytopenia associated with bilateral absence of the radii. C3101 Genetic Disorder C97075 Hereditary Connective Tissue Disorder C90259 NICHD Terminology C99039 Radius Fracture Radius Fracture Fracture of Radius Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken. C3046 Fracture C90259 NICHD Terminology C99040 Recto-Vesico-Vaginal Fistula Rectal-Vesico-Vaginal Fistula An abnormal communication between the rectum, bladder, and vagina. C79847 Vaginal Fistula C90259 NICHD Terminology C99041 Renal Agenesis Renal Agenesis A congenital abnormality characterized by the absence of one or both kidneys. C3149 Kidney Disease C98885 Congenital Urinary System Abnormality C90259 NICHD Terminology C99042 Renal Vein Thrombosis Renal Vein Thrombosis The formation of a thrombus in the renal vein. The formation of a thrombus in the renal vein. C99107 Venous Thrombosis C90259 NICHD Terminology C99044 Retinopathy of Prematurity in Zone 1 Retinopathy of Prematurity in Retinal Anatomic Zone 1 Retinopathy of Prematurity in Zone 1 Retinopathy of prematurity located in zone 1 of the retina. A vasoproliferative condition of very immature newborn infants that may be characterized by neovascularization, scarring, retinal detachment, and eventually blindness. The affected portion of the retina lies within zone 1, a circle that is centered on the optic nerve and extends peripherally twice the distance from the center of the optic disc to the center of the macula. C34982 Retinopathy of Prematurity C90259 NICHD Terminology C99045 Retinopathy of Prematurity in Zone 2 Retinopathy of Prematurity in Retinal Anatomic Zone 2 Retinopathy of Prematurity in Zone 2 Retinopathy of prematurity located in zone 2 of the retina. A vasoproliferative condition of very immature newborn infants that may be characterized by neovascularization, scarring, retinal detachment, and eventually blindness. The affected portion of the retina lies within zone 2, a circle surrounding zone 1 and extending peripherally to the nasal ora serrata. C34982 Retinopathy of Prematurity C90259 NICHD Terminology C99046 Retinopathy of Prematurity in Zone 3 Retinopathy of Prematurity in Retinal Anatomic Zone 3 Retinopathy of Prematurity in Zone 3 Retinopathy of prematurity located in zone 3 of the retina. A vasoproliferative condition of very immature newborn infants that may be characterized by neovascularization, scarring, retinal detachment, and eventually blindness. The affected portion of the retina lies within zone 3, the residual temporal crescent of retina anterior to zone 2. C34982 Retinopathy of Prematurity C90259 NICHD Terminology C99047 Retinopathy of Prematurity Stage 1 Demarcation Line Retinopathy of Prematurity Stage 1 Retinopathy of Prematurity Stage 1 - Demarcation Line An ophthalmoscopic finding that refers to retinopathy of prematurity characterized by the presence of a faint demarcation line. A vasoproliferative condition of the retina seen in very immature newborn infants. Stage 1 is defined by a demarcation line, a thin but definite structure that separates the avascular retina anteriorly from the vascularized retina posteriorly. There is abnormal branching or arcading of vessels leading up to the demarcation line that is relatively flat, white, and lies within the plane of the retina. C34982 Retinopathy of Prematurity C90259 NICHD Terminology C99048 Retinopathy of Prematurity Stage 2 Intraretinal Ridge Retinopathy of Prematurity Stage 2 Retinopathy of Prematurity Stage 2 - Intraretinal Ridge An ophthalmoscopic finding that references retinopathy of prematurity characterized by the presence of an elevated ridge. A vasoproliferative condition of the retina seen in very immature newborn infants. Stage 2 is defined by an intraretinal ridge, the ridge arises from the demarcation line and has height and width, which extends above the plane of the retina. The ridge may change from white to pink and vessels may leave the plane of the retina posterior to the ridge to enter it. C34982 Retinopathy of Prematurity C90259 NICHD Terminology C99049 Retinopathy of Prematurity Stage 3 Ridge with Extraretinal Fibroblastic Proliferation Retinopathy of Prematurity Stage 3 Retinopathy of Prematurity Stage 3 - Ridge with Extraretinal Fibrovascular Proliferation An ophthalmoscopic finding that references retinopathy of prematurity characterized by the presence of extraretinal fibrovascular tissue. A vasoproliferative condition of the retina seen in very immature newborn infants. Stage 3 is defined by a ridge with extraretinal fibrovascular proliferation, the neovascularization extends from the ridge into the vitreous. This extraretinal proliferating tissue is continuous with the posterior aspect of the ridge, causing a ragged appearance as the proliferation becomes more extensive. C34982 Retinopathy of Prematurity C90259 NICHD Terminology C99050 Retinopathy of Prematurity Stage 4 Subtotal Retinal Detachment Retinopathy of Prematurity Stage 4 Retinopathy of Prematurity Stage 4 - Subtotal Retinal Detachment An ophthalmoscopic finding that references retinopathy of prematurity characterized by the presence of subtotal retinal detachment. A vasoproliferative condition of the retina seen in very immature newborn infants. Stage 4 is defined by subtotal retinal detachment. The retinal detachments are generally concave and most are circumferentially oriented. Retinal detachments usually begin at the point of fibrovascular attachment to the vascularized retina and the extent of detachment depends on the amount of neovascularization present. Stage 4A is defined by retinal detachment which spares the macula. Stage 4B is defined by retinal detachment involving the macula. C34982 Retinopathy of Prematurity C90259 NICHD Terminology C99051 Retinopathy of Prematurity Stage 5 Total Retinal Detachment Retinopathy of Prematurity Stage 5 Retinopathy of Prematurity Stage 5 - Total Retinal Detachment An ophthalmoscopic finding that references retinopathy of prematurity characterized by the presence of total retinal detachment. A vasoproliferative condition of the retina seen in very immature newborn infants. Stage 5 is defined by total retinal detachment. The retinal detachments are generally tractional and usually funnel shaped. The configuration of the funnel itself is used for subdivision of this stage depending if the anterior and posterior portions are open or narrowed. C34982 Retinopathy of Prematurity C90259 NICHD Terminology C99052 Rh Titer Measurement Rh Titer Measurement Rhesus Antibody Titer Measurement An immunology test that detects the quantity of anti-Rhesus antibodies in the serum of a pregnant woman. C25294 Laboratory Procedure C90259 NICHD Terminology C99053 Hypoplastic Right Heart Syndrome Hypoplastic Right Heart Syndrome Right Hypoplastic Heart Syndrome A rare congenital cardiovascular disorder characterized by severe underdevelopment of the right side of the heart. The infants develop cyanosis shortly after birth. It is a condition that requires immediate emergency treatment. C3101 Genetic Disorder C95834 Congenital Heart Disease C90259 NICHD Terminology C99054 Sacral Agenesis Sacral Agenesis Caudal Regression A rare congenital abnormality characterized by partial or complete absence of the lower portion of the spine. C89337 Congenital Musculoskeletal Defect C90259 NICHD Terminology C99055 Sacrococcygeal Teratoma Sacrococcygeal Teratoma A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns. A teratoma that is found at the base of the coccyx; it is the most commonly seen tumor in newborns. C3262 Neoplasm C3403 Teratoma C90259 NICHD Terminology C99056 Schizencephaly Schizencephaly A rare developmental abnormality characterized by the presence of clefs in the cerebral hemispheres. The abnormality may involve one or both cerebral hemispheres. Signs and symptoms include developmental delays, mental retardation, paralysis, presence of a small head, and seizures. C97172 Congenital Nervous System Disorder C90259 NICHD Terminology C99057 Severe Bronchopulmonary Dysplasia Severe Bronchopulmonary Dysplasia Severe BPD Bronchopulmonary dysplasia that results in severe respiratory complications. The infants with severe symptoms are usually premature, have low birth weight, and the oxygen and ventilation support requirements are increased. A chronic lung disorder associated with pulmonary maldevelopment, scarring, and/or inflammation that develops in preterm neonates exposed to supplemental oxygen for at least 28 days. For infants born before 32 weeks gestation with severe BPD, there is a supplemental oxygen requirement of greater than or equal to 30% and/or positive pressure at 36 weeks postmenstrual age or earlier discharge. For infants born after 32 weeks with severe BPD, there is a supplemental oxygen requirement of greater than or equal to 30% and/or positive pressure at 56 days post-natal age or at earlier discharge. C90599 Bronchopulmonary Dysplasia C90259 NICHD Terminology C99058 Shone Syndrome Shone Syndrome Shone's Syndrome (Greater than 3 Sites) A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis. C35729 Congenital Cardiovascular Abnormality C90259 NICHD Terminology C99059 Short Bowel Syndrome Short Bowel Syndrome Malabsorption that results from the removal of a large segment of the small intestine or, less frequently, from the complete dysfunction of a large portion of the small intestine. Signs and symptoms include diarrhea, steatorrhea, and weigh loss. Malabsorption that results from the removal of a large segment of the small intestine or, less frequently, from the complete dysfunction of a large portion of the small intestine. Signs and symptoms include diarrhea, steatorrhea, and weigh loss. C97171 Congenital Gastrointestinal Disorder C90259 NICHD Terminology C99060 Single Ventricle Defect Single Ventricle Defect Single Ventricle A diverse group of congenital cardiovascular abnormalities that share one characteristic, the presence of a single functional cardiac ventricle. C95834 Congenital Heart Disease C90259 NICHD Terminology C99061 Situs Inversus Thoracis Situs Inversus Thoracis A congenital condition in which there is complete right-to-left reversal of the position of the thoracic organs. C87121 Situs Inversus C90259 NICHD Terminology C99063 Spinal Cord Infarction Spinal Cord Infarction Infarction of Spinal Cord Ischemic necrosis of the spinal cord caused by occlusion of the arteries that supply blood to the spinal cord. Signs and symptoms include intermittent back pain, pain in the legs, paralysis, and incontinence. C25738 Infarct C2934 Central Nervous System Disorder C90259 NICHD Terminology C99064 Spinal Deformity Spinal Deformity A congenital or acquired deformity of the spine. Representative examples include scoliosis, kyphosis, and sagittal imbalance. C2934 Central Nervous System Disorder C90259 NICHD Terminology C99066 Supravalvular Pulmonary Artery Stenosis Supravalvular Pulmonary Artery Stenosis Pulmonary Artery Stenosis, Supravalvar Stenosis of the pulmonary artery that occurs above the valve. C35117 Vascular Disorder C90259 NICHD Terminology C99067 Surfactant Protein Deficiency Surfactant Protein Deficiency Surfactant Apoprotein Abnormality A congenital deficiency of one of the surfactant proteins. C98882 Congenital Lung Malformation C90259 NICHD Terminology C99068 Pulmonary Surfactant Metabolism Dysfunction-1 Surfactant Protein B Deficiency Surfactant Apoprotein B Deficiency An autosomal recessive condition caused by mutation(s) in the SFTPB gene, encoding pulmonary surfactant-associated protein B. It is characterized by severe respiratory distress-like illness and responds poorly to exogenous administration of surfactant. C99067 Surfactant Protein Deficiency C90259 NICHD Terminology C99069 Surfactant Protein C Deficiency Surfactant Protein C Deficiency Surfactant Apoprotein C Deficiency Deficiency of surfactant protein C. It leads to progressive lung fibrosis. C99067 Surfactant Protein Deficiency C90259 NICHD Terminology C99070 Surfactant Protein ABCA3 Deficiency Surfactant Protein ABCA3 Deficiency Surfactant Apoprotein ABCA3 Deficiency Deficiency of surfactant protein ABCA3. It leads to respiratory distress that is often fatal. C99067 Surfactant Protein Deficiency C90259 NICHD Terminology C99071 Surfactant Protein D Deficiency Surfactant Protein D Deficiency Surfactant Apoprotein D Deficiency Deficiency of surfactant protein D. When present in normal amounts, this protein offers protection against pulmonary infection and inflammation. C99067 Surfactant Protein Deficiency C90259 NICHD Terminology C99072 Surfactant Protein A Deficiency Surfactant Protein A Deficiency Surfactant Apoprotein A Deficiency Deficiency of surfactant protein A. When present in normal amounts, this protein protects the lungs against a variety of bacteria, viruses, and fungi. C99067 Surfactant Protein Deficiency C90259 NICHD Terminology C99080 Tethered Spinal Cord Syndrome Tethered Spinal Cord Syndrome Spinal Cord Syndrome || Tethered Cord A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence. C36287 Congenital or Acquired Anatomic Abnormality C90259 NICHD Terminology C99081 Arakawa Syndrome II Arakawa Syndrome II Methionine Synthase Deficiency || Tetrahydrofolate Methyltransferase Deficiency A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly. C3101 Genetic Disorder C90259 NICHD Terminology C99082 Thalidomide Embryopathy Syndrome Thalidomide Embryopathy Fetal Thalidomide Syndrome || Thalidomide Embryopathy Syndrome Fetal embryopathy associated with maternal thalidomide use during pregnancy characterized by phocomelia of one or all limbs, other limb defects such as thumb abnormalities, and other structural anomalies that may include facial hemangioma, esophageal and duodenal atresia, tetralogy of Fallot, renal agenesis, and anomalies of the external ear. Long term complications may include Moebius syndrome or autism. Fetal embryopathy associated with maternal thalidomide use during pregnancy characterized by phocomelia of one or all limbs, other limb defects such as thumb abnormalities, and other structural anomalies that may include facial hemangioma, esophageal and duodenal atresia, tetralogy of Fallot, renal agenesis, and anomalies of the external ear. Long term complications may include Moebius syndrome or autism. C92719 Fetal Disorder C90259 NICHD Terminology C99083 Tibia Fracture Tibia Fracture Fracture of Tibia Traumatic or pathological injury to the tibia in which the continuity of the bone is broken. C3046 Fracture C90259 NICHD Terminology C99084 Ovarian Torsion Ovarian Torsion Twisting of the ovary resulting in the cutoff of the blood supply to the ovary. It may develop in an enlarged or normal ovary and in the vast majority of cases is unilateral. Signs and symptoms include acute lower abdominal pain, nausea, vomiting, and fever. C27020 Female Reproductive System Disorder C90259 NICHD Terminology C99085 Townes-Brocks Syndrome Townes-Brocks Syndrome Townes Syndrome An autosomal dominant inherited syndrome caused by mutations in the SALL1 gene. Clinical manifestations include imperforate anus, malformations in the ears and hands, hearing loss, and kidney and heart abnormalities. An autosomal dominant syndrome caused by mutations in the SALL1 gene, and characterized by imperforate anus, malformations in the ears and hands, hearing loss, and kidney and heart abnormalities. C3101 Genetic Disorder C90259 NICHD Terminology C99086 Airway Hemangioma Airway Hemangioma A rare infantile hemangioma in the airway, usually in the subglottic area or trachea. It may or may not be associated with cutaneous lesions. It is a potentially life-threatening condition and the infant should be closely monitored for signs of airway disease. C35079 Tracheal Disorder C3085 Hemangioma C90259 NICHD Terminology C99088 Impetigo Impetigo A contagious bacterial cutaneous infection that affects children and is usually caused by Staphylococcus aureus. It usually presents in the face with honey colored scabs. A bacterial skin infection characterized by red sores or blisters that progress to a honey colored crust. C3371 Skin Disorder C90259 NICHD Terminology C99089 Liver Abscess Liver Abscess Hepatic Abscess A bacterial, parasitic, or fungal abscess that develops in the liver. It is usually the result of an abdominal infection, trauma, or surgery in the right upper quadrant. Signs and symptoms include abdominal pain, nausea, vomiting, and fever. An abscess within the liver. C26686 Abscess C90259 NICHD Terminology C99096 Dextro-Transposition of the Great Arteries Dextro-Transposition of the Great Arteries D-Transposition of the Great Vessels || Dextro-Transposition of the Great Vessels A cyanotic congenital cardiovascular abnormality characterized by the transposition of the aorta and the pulmonary artery. C84742 Transposition of Great Vessels C90259 NICHD Terminology C99099 Type I Acrocephalosyndactyly Type I Acrocephalosyndactyly Acrocephalosyndactyly Type I An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR2 gene. It is characterized by early closure of the sutures between the skull bones, bulging eyes, low-set ears, fusion of the second, third, and forth fingers, and fusion of the toes. C34348 Acrocephalosyndactyly C90259 NICHD Terminology C99100 Type V Acrocephalosyndactyly Type V Acrocephalosyndactyly Acrocephalosyndactyly Type V An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR1 or FGFR2 genes. It is characterized by early closure of the sutures between the skull bones, bulging and wide-set eyes, broad thumbs, big toes, and partial syndactyly in the hands and toes. C34348 Acrocephalosyndactyly C90259 NICHD Terminology C99101 Glutaric Acidemia Type 1 Glutaric Aciduria, Type 1 A rare autosomal recessive inherited metabolic disorder caused by deficiency of the enzyme glutaryl-CoA dehydrogenase. It is characterized by abnormalities in the metabolism of lysine, hydroxylysine, and tryptophan that result in the accumulation and urinary excretion of glutaric acid. Patients present with brain atrophy, microcephaly, and acute dystonia. C97090 Amino Acid Metabolism Disorder C90259 NICHD Terminology C99103 Uterine Agenesis Uterine Agenesis Absence of Uterus || Uterus Absent A congenital abnormality characterized by the complete absence of the uterus. C27020 Female Reproductive System Disorder C103185 Congenital Reproductive System Abnormality C90259 NICHD Terminology C99104 UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency An inherited metabolic disorder characterized by increased levels of galactose in the blood. Clinical signs include failure to thrive, developmental delays, liver damage and jaundice, cataract, and ovarian failure. C84723 Galactosemia C90259 NICHD Terminology C99105 VACTERL Association VACTERL Association Vertebral Abnormalities, Anal Atresia, Cardiac Abnormalities, Tracheo-Esophageal Fistula, Renal Anomalies, Limb Defects Syndrome An association of congenital birth defects that includes vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal abnormalities, and limb abnormalities. An association of congenital birth defects that includes vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal abnormalities, and limb abnormalities. C97151 Congenital Systemic Disorder C90259 NICHD Terminology C99106 Vascular Ring Vascular Ring Vascular Ring of Aorta An unusual congenital abnormality in which the aorta or aortic branches encircle the trachea and esophagus. Signs and symptoms include difficulty swallowing and eating, persistent cough, noisy breathing, and acid reflex. C99137 Great Vessels Abnormality C90259 NICHD Terminology C99107 Venous Thrombosis Venous Thrombosis The formation of a blood clot (thrombus) in the lumen of a vein. Partial or complete occlusion of the lumen of a vein by a thrombus. C26891 Thrombosis C90259 NICHD Terminology C99108 Vitamin K Deficiency Vitamin K Deficiency Vitamin K Deficiency Coagulation Disorder Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding. Depletion of fat-soluble vitamin K stores. C27215 Coagulation Factor Deficiency C35772 Vitamin Deficiency Disorder C90259 NICHD Terminology C99109 Walker-Warburg Syndrome Walker-Warburg Syndrome Walker-Warburg Muscular Dystrophy A rare autosomal recessive inherited muscular dystrophy. It presents with generalized hypotonia, muscle weakness, mental retardation, developmental delays, and brain and eye abnormalities. C84910 Muscular Dystrophy C3101 Genetic Disorder C90259 NICHD Terminology C99110 Drug Induced Thrombocytopenia Drug-Induced Thrombocytopenia Drug Induced Thrombocytopenia || Drug-Induced Immune Thrombocytopenia Thrombocytopenia caused by ingested or injected drugs. It may be the result of decreased platelet production due to bone marrow suppression or increased rate of platelet destruction. Thrombocytopenia caused by medications, which can be the result of decreased platelet production due to bone marrow suppression or increased rate of platelet destruction. C131634 Platelet Abnormality C3408 Thrombocytopenia C90259 NICHD Terminology C99111 Heparin Induced Thrombocytopenia Heparin-Induced Thrombocytopenia HIT || Heparin Induced Thrombocytopenia A life-threatening complication of heparin therapy. It results in immune-mediated thrombocytopenia and, in 25-50 percent of the patients, thrombotic complications. A complication of heparin therapy. It results in immune-mediated thrombocytopenia and, in 25-50 percent of the patients, thrombotic complications. C99110 Drug-Induced Thrombocytopenia C3991 Immune Thrombocytopenia C90259 NICHD Terminology C99112 Cystic Periventricular Leukomalacia Cystic Periventricular Leukomalacia Necrosis and softening of the white matter around the ventricles in the brain associated with cystic changes. C99013 Periventricular Leukomalacia C90259 NICHD Terminology C99113 Ectopic Atrial Tachycardia Ectopic Atrial Tachycardia A disorder characterized by an electrocardiographic finding of atrial tachycardia that does not originate from the sinoatrial node. C110938 Tachyarrhythmia C90259 NICHD Terminology C99115 Immature Retinal Vasculature Immature Retinal Vasculature A finding that indicates the presence of immature retinal vessels as a result of prematurity. Incomplete retinal vascular development commonly seen as a result of prematurity that may be described in three zones. Since retinal vascular development proceeds from the optic nerve to the ora serrata, the zones are described based on their relationship to the optic disc rather than the macula. C26875 Retinal Disorder C90259 NICHD Terminology C99117 Immature Retinal Vasculature in Zone 1 Immature Retinal Vasculature in Retinal Anatomic Zone 1 Immature Retinal Vasculature in Zone 1 A finding that indicates the presence of immature retinal vessels in zone 1 of the retina. Incomplete retinal vascular development commonly seen as a result of prematurity. Some portion of the vessels terminate within zone 1, a circle that is centered on the optic nerve and extends peripherally twice the distance from the center of the optic disc to the center of the macula. C99115 Immature Retinal Vasculature C90259 NICHD Terminology C99118 Immature Retinal Vasculature in Zone 2 Immature Retinal Vasculature in Retinal Anatomic Zone 2 Immature Retinal Vasculature in Zone 2 A finding that indicates the presence of immature retinal vessels in zone 2 of the retina. Incomplete retinal vascular development commonly seen as a result of prematurity. Some portion of the vessels terminate within zone 2, a circle surrounding zone 1 and extending peripherally to the nasal ora serrata. C99115 Immature Retinal Vasculature C90259 NICHD Terminology C99119 Immature Retinal Vasculature in Zone 3 Immature Retinal Vasculature in Retinal Anatomic Zone 3 Immature Retinal Vasculature in Zone 3 A finding that indicates the presence of immature retinal vessels in zone 3 of the retina. Incomplete retinal vascular development commonly seen as a result of prematurity. Some portion of the vessels terminate within zone 3, the residual temporal crescent of retina anterior to zone 2. C99115 Immature Retinal Vasculature C90259 NICHD Terminology C99121 In Utero Bowel Perforation In Utero Bowel Perforation Bowel perforation in utero that may result in meconium peritonitis. Bowel perforation in utero that may result in meconium peritonitis. C39611 Intestinal Perforation C90259 NICHD Terminology C99124 Increased Bone Density Increased Bone Density A finding indicating an increased density of minerals in the bones. Causes include osteopetrosis and Paget disease. C110937 Musculoskeletal Finding C90259 NICHD Terminology C99126 Left Ventricular Outflow Tract Obstruction Left Ventricular Outflow Tract Obstruction Obstruction of the left ventricular outflow tract. It is caused by aortic valve, supravalvar, or subvalvar defects. C95834 Congenital Heart Disease C90259 NICHD Terminology C99128 Thoracic Myelocele Thoracic Myelocele Herniation of spinal cord tissue and meninges through a defect in the thoracic region of the vertebral column. The protrusion of the tissue is flush with the level of the skin surface. C98874 Myelocele C90259 NICHD Terminology C99135 Embryonic Stage Embryonic Stage A human life stage, during prenatal development, that begins at fertilization and typically continues until the end of eight weeks after fertilization, with full formation of the embryo. A human life stage, during prenatal development, that begins at fertilization and typically continues until the end of eight weeks after fertilization, with full formation of the embryo. C89335 Life Stage C90259 NICHD Terminology C99136 Normal Pupillary Response Normal Pupillary Response Pupil Reactions Normal A finding indicating the quick and brisk constriction of the pupils in response to light. C36280 Nervous System Finding C90259 NICHD Terminology C99137 Great Vessels Abnormality Great Vessels Abnormality Great Vessel Abnormality A congenital vascular abnormality that affects the great vessels and/or aortic arch. Representative examples include double aortic arch, aortic coarctation, and absence of a pulmonary artery. C35117 Vascular Disorder C35729 Congenital Cardiovascular Abnormality C90259 NICHD Terminology C99138 Germinal Matrix Hemorrhage of the Newborn Germinal Matrix Hemorrhage of Newborn Grade 1 Intraventricular (Nontraumatic) Hemorrhage of Fetus and Newborn || Grade 1 Intraventricular Hemorrhage of the Newborn || Intraventricular (Nontraumatic) Hemorrhage, Grade 1, of Fetus and Newborn || Intraventricular Hemorrhage of Newborn Grade 1 || Subependymal Germinal Matrix Hemorrhage of Newborn Bleeding into the thick layer of immature cells under the ependymal lining at the ventrolateral aspect of the lateral cerebral ventricles of a newborn. Bleeding into the thick layer of immature cells under the ependymal lining at the ventrolateral aspect of the lateral cerebral ventricles. C50896 Intraventricular Hemorrhage C98996 Neonatal Disorder C90259 NICHD Terminology C99139 Intraventricular Hemorrhage of the Newborn without Ventricular Dilatation Intraventricular Hemorrhage of the Newborn without Ventricular Dilatation Grade 2 Intraventricular (Nontraumatic) Hemorrhage of Fetus and Newborn || Grade 2 Intraventricular Hemorrhage of the Newborn || Intraventricular (Nontraumatic) Hemorrhage, Grade 2, of Fetus and Newborn || Intraventricular Hemorrhage of Newborn Grade 2 Bleeding into the lateral cerebral ventricles of a newborn infant without acute ventricular dilatation. Bleeding into the lateral cerebral ventricles of a newborn infant without acute ventricular dilatation. C50896 Intraventricular Hemorrhage C98996 Neonatal Disorder C90259 NICHD Terminology C99140 Intraventricular Hemorrhage of the Newborn with Ventricular Dilatation Intraventricular Hemorrhage of the Newborn with Ventricular Dilatation Grade 3 Intraventricular (Nontraumatic) Hemorrhage of Fetus and Newborn || Grade 3 Intraventricular Hemorrhage of the Newborn || Intraventricular (Nontraumatic) Hemorrhage, Grade 3, of Fetus and Newborn || Intraventricular Hemorrhage of Newborn Grade 3 Bleeding into the lateral cerebral ventricles of a newborn infant with ventricular dilatation directly attributable to the acute bleeding. Bleeding into the lateral cerebral ventricles of a newborn infant with ventricular dilatation directly attributable to the acute bleeding. C50896 Intraventricular Hemorrhage C98996 Neonatal Disorder C90259 NICHD Terminology C99141 Radial Hypoplasia Radial Hypoplasia Congenital Hypoplasia of Radius A congenital deformity characterized by the presence of hypoplastic radius. It is usually associated with club hand deformity. C84978 Osteochondrodysplasia C90259 NICHD Terminology C99142 OEIS Complex OEIS Syndrome Cloacal Exstrophy || Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects A rare combination of congenital abnormalities that includes omphalocele, cloacal exstrophy, imperforate anus, and spine abnormalities. A spectrum of anomalies without common etiology that occurs during development of the abdominal wall. Clinical features may include omphalocele, exstrophy of the bladder and rectum, imperforate anus, and spinal defects. Genital and reproductive anomalies may include bifid penis, clitoris, and/or uterus. C97151 Congenital Systemic Disorder C90259 NICHD Terminology C99144 Branch Pulmonary Artery Stenosis Branch Pulmonary Artery Stenosis Pulmonary Artery Stenosis, Branch (not PPS) Narrowing of the lumen of the right or left pulmonary artery branch. C99137 Great Vessels Abnormality C90259 NICHD Terminology C99145 Spontaneous Perforation Spontaneous Perforation A hole through the wall of an organ that occurs without external influence. C3671 Injury C90259 NICHD Terminology C99149 Bayley Scale of Infant Development II Bayley Scale of Infant Development II The second edition of the Bayley Scales of Infant Development, a standardized series of measurements that assesses the cognitive, motor, and behavioral development in infants and babies from one to twenty-four months of age. C81314 Newborn Behavorial Examination C90259 NICHD Terminology C99150 Bayley Scale of Infant Development III Bayley Scale of Infant Development III The third edition of the Bayley Scales of Infant Development, a standardized series of measurements that assesses the cognitive, motor, and behavioral development in infants and babies from one to twenty-four months of age. C81314 Newborn Behavorial Examination C90259 NICHD Terminology C99208 Eye Finding Eye Finding Symptoms, physical examination results, and/or laboratory test results related to the eye. C3367 Finding C90259 NICHD Terminology C99231 Neonatal Infectious Disorder Neonatal Infectious Disorder An infectious disorder that occurs during the neonatal period. Representative examples include streptococcal infection, E.coli infection, and bacterial meningitis. A disorder in a newborn infant up to 28 days old resulting from the presence and activity of a bacterial, fungal, viral, or parasitic agent. It can transmitted antenatally, perinatally or postnatally. C26726 Infectious Disorder C98996 Neonatal Disorder C90259 NICHD Terminology C99232 Neonatal Respiratory System Disorder Neonatal Respiratory System Disorder A respiratory system disorder that occurs during the neonatal period. A representative example is the respiratory distress syndrome. C26871 Respiratory System Disorder C98996 Neonatal Disorder C90259 NICHD Terminology C99233 Neonatal Rickets Metabolic Bone Disease of Prematurity Neonatal Rickets || Osteopenia of Prematurity || Rickets of Prematurity Rickets that usually affects premature infants. Factors that contribute to the development of neonatal rickets include calcium, phosphorus, or calciferol deficiency. It manifests with spontaneous fractures, respiratory distress, and growth developmental delays. A condition characterized by decreased mineral content of the bone of a fetus or infant due to inadequate availability of calcium and/or phosphorus. Associated risk factors include the degree of prematurity, low birth weight, medication exposures, immobilization, and nutrient insufficiency. Metabolic bone disease of prematurity is characterized by hypophosphatemia, hyperphosphatasia, and secondary hyperparathyroidism, and may include rachitic bony changes and fractures. Inadequate bone mineralization may contribute to bronchopulmonary dysplasia and poor growth. C26878 Rickets C98996 Neonatal Disorder C90259 NICHD Terminology C99235 Neonatal Hyperbilirubinemia Neonatal Hyperbilirubinemia Increased levels of bilirubin in the blood during the neonatal period. In the majority of cases it is seen in the first week of life and usually there is no underlying disease, however, it may also occur in hemolytic diseases, infections, metabolic disorders, and liver abnormalities. Increased levels of bilirubin in the blood during the first 28 days of life, which may be due to a pathologic or non-pathologic cause. C27088 Hyperbilirubinemia C90259 NICHD Terminology C99236 Neonatal Lupus Erythematosus Neonatal Lupus Erythematosus A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis. A disorder caused by placental transfer of maternal autoantibodies, usually anti-Ro (SSA) and/or anti-La (SSB), leading to fetal tissue damage associated with congenital heart block, and reversible manifestations such as skin rash, thrombocytopenia, and hepatitis. C98996 Neonatal Disorder C90259 NICHD Terminology C99237 Neonatal Hypoglycemia Neonatal Hypoglycemia Blood glucose concentration below the lower limit of established reference ranges in a newborn. Blood glucose concentration below the lower limit of established reference ranges in a newborn. C98996 Neonatal Disorder C90259 NICHD Terminology C99246 Neonatal Jaundice Neonatal Jaundice Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma. Yellow coloring of skin, mucous membranes and eyes due to hyperbilirubinemia that appears during the first 28 days of life. C3143 Jaundice C90259 NICHD Terminology C99248 Neonatal Diabetes Mellitus Neonatal Diabetes Mellitus Congenital Diabetes Mellitus Hyperglycemia in the newborn due to a defect in the secretion or function of insulin. Diabetes mellitus occurring in the first six months of life. C2985 Diabetes Mellitus C98996 Neonatal Disorder C90259 NICHD Terminology C99251 Neonatal Adrenoleukodystrophy Neonatal Adrenoleukodystrophy A rare metabolic disorder that affects neonates. It is characterized by damage of the white matter in the brain and degeneration of the adrenal glands. It manifests with hyperactivity, paralysis, muscular weakness, crossed eyes, hearing loss, seizures, and coma. C34816 Congenital Metabolic Disorder C98996 Neonatal Disorder C90259 NICHD Terminology C99253 Neonatal Acrocyanosis Neonatal Acrocyanosis Transient cyanotic discoloration of the hands and feet, especially fingers and toes, in a newborn. C26737 Cyanosis C90259 NICHD Terminology C99255 Neonatal Opiate Withdrawal Syndrome Neonatal Opiate Withdrawal Syndrome Neonatal Opioid Withdrawal Syndrome A constellation of neurobehavioral features observed in a neonate following cessation or reduction of postnatal exposure to opioids. A constellation of neurobehavioral features observed in a neonate following cessation or reduction of postnatal exposure to opioids. C101321 Neonatal Drug Withdrawal C90259 NICHD Terminology C99258 Perinatal Drug Withdrawal Perinatal Drug Withdrawal Withdrawal signs and symptoms that present during the perinatal period and are caused by drug use by the pregnant mother. C35046 Drug Withdrawal C35095 Perinatal Disorder C90259 NICHD Terminology C99261 Perinatal Intracranial Hemorrhage Perinatal Intracranial Hemorrhage Bleeding within the skull of a newborn infant occurring around the time of birth. Bleeding within the skull of a newborn infant occurring around the time of birth. C50438 Intracranial Hemorrhage C35095 Perinatal Disorder C90259 NICHD Terminology C99265 Congenital Complete Atrioventricular Block Congenital Complete Atrioventricular Block A disorder characterized by an electrocardiographic finding of a complete atrioventricular block that manifests during fetal life or soon after birth. It may be isolated or associated with other congenital heart defects. Isolated congenital complete atrioventricular block may be associated with maternal connective tissue disorders. C50501 Atrioventricular Block, Third Degree C90259 NICHD Terminology C99267 Congenital Malformation Syndrome Congenital Malformation Syndrome A syndrome characterized by the presence of congenital abnormalities that affect more than one organ or system. C2849 Congenital Malformation C90259 NICHD Terminology C99382 Autoimmune Cytopenia Autoimmune Cytopenia Cytopenia caused by autoantibodies against the red blood cells, neutrophils, and/or platelets. Cytopenia caused by autoantibodies against the red blood cells, neutrophils, and/or platelets. C2889 Autoimmune Disease C90259 NICHD Terminology C99537 Venous Thromboembolism Venous Thromboembolism Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream. The migration of a blood clot formed within a vein to a site distant from the formation. C35117 Vascular Disorder C90259 NICHD Terminology C99542 Common Ventricle Disorder Common Ventricle An umbrella term used to describe several very different complex congenital heart defects that share the same problem: the heart has only one functional ventricle (anatomically right or left or indeterminate) supplying the systemic circulation. These defects include tricuspid atresia, hypoplastic left or right heart syndrome, double outlet right ventricle, double inlet left ventricle, and other forms of single ventricle defects. C95834 Congenital Heart Disease C90259 NICHD Terminology